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Year
Paper
2023

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

 Jakob Berner, Cheryl van de Wetering, Raul Jimenez Heredia, Christina Rashkova, Sacha Ferdinandusse, Janet Koster, Johannes G Weiss, Alexandra Frohne, Sarah Giuliani, Hans R Waterham, Irinka Castanon, Jürgen Brunner, Kaan Boztug.
J Allergy Clin Immunol. 2023 Jun 25:S0091-6749(23)00809-6. doi: 10.1016/j.jaci.2023.06.013. Online ahead of print.
Abstract: https://pubmed.ncbi.nlm.nih.gov/37364720/
2023

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

 Jana Block, Christina Rashkova, Irinka Castanon, Samaneh Zoghi, Jessica Platon, Rico C Ardy, Mitsuhiro Fujiwara, Beatriz Chaves, Rouven Schoppmeyer, Caspar I van der Made, Raul Jimenez Heredia, Frederike L Harms, Samin Alavi, Laia Alsina, Paula Sanchez Moreno, Rainiero Ávila Polo, Rocío Cabrera-Pérez, Sevgi Kostel Bal, Laurène Pfajfer, Bernhard Ransmayr, Anna-Katharina Mautner, Ryohei Kondo, Anna Tinnacher, Michael Caldera, Michael Schuster, Cecilia Domínguez Conde, René Platzer, Elisabeth Salzer, Thomas Boyer, Han G Brunner, Judith E Nooitgedagt-Frons, Estíbaliz Iglesias, Angela Deyà-Martinez, Marisol Camacho-Lovillo, Jörg Menche, Christoph Bock, Johannes B Huppa, Winfried F Pickl, Martin Distel, Jeffrey A Yoder, David Traver, Karin R Engelhardt, Tobias Linden, Leo Kager, J Thomas Hannich, Alexander Hoischen, Sophie Hambleton, Sabine Illsinger, Lydie Da Costa, Kerstin Kutsche, Zahra Chavoshzadeh, Jaap D van Buul, Jordi Antón, Joan Calzada-Hernández, Olaf Neth, Julien Viaud, Akihiko Nishikimi, Loïc Dupré, Kaan Boztug.
N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21.
Abstract: https://pubmed.ncbi.nlm.nih.gov/37342957/
2023

Screening newborns for low T cell receptor excision circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome

 Olga Staudacher, Jeanette Klein, Stephanie Thee, Jan Ullrich, Volker Wahn, Nadine Unterwalder, Uwe Kölsch, Erwin Lankes, Anna Stittrich, Cinzia Dedieu, Sarah Dinges, Mirjam Völler, Catharina Schuetz, Johannes Schulte, Kaan Boztug, Christian Meisel, Jörn-Sven Kuehl, Renate Krüger, Oliver Blankenstein, Horst von Bernuth.
J Allergy Clin Immunol Pract. 2023 Jun 9:S2213-2198(23)00649-9. doi: 10.1016/j.jaip.2023.06.006. Online ahead of print.
Abstract: https://pubmed.ncbi.nlm.nih.gov/37302792/
2023

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient

 Negar Moradian, Samaneh Zoghi, Elham Rayzan, Simin Seyedpour, Raul Jimenez Heredia, Kaan Boztug, Nima Rezaei.
Allergy Asthma Clin Immunol. 2023 Jun 9;19(1):51. doi: 10.1186/s13223-023-00804-4.
Abstract: https://pubmed.ncbi.nlm.nih.gov/37296469/
2023

Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis

 Sevgi Kostel Bal, Sarah Giuliani, Jana Block, Peter Repiscak, Christoph Hafemeister, Tala Shahin, Nurhan Kasap, Bernhard Ransmayr, Yirun Miao, Cheryl van de Wetering, Alexandra Frohne, Raul Jimenez Heredia, Michael Schuster, Samaneh Zoghi, Vanessa Hertlein, Marini Thian, Aleksandr Bykov, Royala Babayeva, Sevgi Bilgic Eltan, Elif Karakoc-Aydiner, Lisa E Shaw, Iftekhar Chowdhury, Markku Varjosalo, Rafael J Argüello, Matthias Farlik, Ahmet Ozen, Edgar Serfling, Loïc Dupré, Christoph Bock, Florian Halbritter, J Thomas Hannich, Irinka Castanon, Michael J Kraakman, Safa Baris, Kaan Boztug.
Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303.
Abstract: https://pubmed.ncbi.nlm.nih.gov/37249233/
2023

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

 Antti Tallgren, Leo Kager, Gina O'Grady, Hannu Tuominen, Jarmo Körkkö, Outi Kuismin, Martha Feucht, Callum Wilson, Jana Behunova, Eleina England, Mitja I Kurki, Aarno Palotie, Mikko Hallman, Riitta Kaarteenaho, Franco Laccone, Kaan Boztug, Reetta Hinttala, Johanna Uusimaa.
Front Neurosci. 2023 Apr 27;17:1123327. doi: 10.3389/fnins.2023.1123327. eCollection 2023.
Abstract: https://pubmed.ncbi.nlm.nih.gov/37179546/
2023

Polymerase-δ-deficiency as a novel cause of inborn cancer predisposition associated with human papillomavirus infection

 Johanna Strobl, Bettina Huber, Raul Jimenez Heredia, Reinhard Kirnbauer, Kaan Boztug, Georg Stary.
Br J Dermatol. 2023 Apr 20;188(5):684-685. doi: 10.1093/bjd/ljad021.
Abstract: https://pubmed.ncbi.nlm.nih.gov/36787285/
2022

Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

 Mazdak Fallahi, Mahnaz Jamee, Javad Enayat, Fahimeh Abdollahimajd, Mehrnaz Mesdaghi, Maliheh Khoddami, Anna Segarra-Roca, Alexandra Frohne, Jasmin Dmytrus, Mohammad Keramatipour, Mahboubeh Mansouri, Golnaz Eslamian, Shahrzad Fallah, Kaan Boztug, Zahra Chavoshzadeh.
Allergy Asthma Clin Immunol. 2022 Dec 24;18(1):111. doi: 10.1186/s13223-022-00749-0.
Abstract: https://pubmed.ncbi.nlm.nih.gov/36566211/
2022

Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

 Mazdak Fallahi, Mahnaz Jamee, Javad Enayat, Fahimeh Abdollahimajd, Mehrnaz Mesdaghi, Maliheh Khoddami, Anna Segarra-Roca, Alexandra Frohne, Jasmin Dmytrus, Mohammad Keramatipour, Mahboubeh Mansouri, Golnaz Eslamian, Shahrzad Fallah, Kaan Boztug, Zahra Chavoshzadeh.
Allergy Asthma Clin Immunol. 2022 Dec 24;18(1):111. doi: 10.1186/s13223-022-00749-0.
Abstract: https://pubmed.ncbi.nlm.nih.gov/36566211/
2022

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency

 Enrico Drago, Francesca Garbarino, Sara Signa, Alice Grossi, Francesca Schena, Federica Penco, Elettra Santori, Fabio Candotti, Kaan Boztug, Stefano Volpi, Marco Gattorno, Roberta Caorsi.
Front Immunol. 2022 Sep 9;13:937108. doi: 10.3389/fimmu.2022.937108. eCollection 2022.
Abstract: https://pubmed.ncbi.nlm.nih.gov/36159847/
2022

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency

 Enrico Drago, Francesca Garbarino, Sara Signa, Alice Grossi, Francesca Schena, Federica Penco, Elettra Santori, Fabio Candotti, Kaan Boztug, Stefano Volpi, Marco Gattorno, Roberta Caorsi.
Front Immunol. 2022 Sep 9;13:937108. doi: 10.3389/fimmu.2022.937108. eCollection 2022.
Abstract: https://pubmed.ncbi.nlm.nih.gov/36159847/
2022

T-cell/histiocyte-rich large B-cell lymphoma in a patient with a novel frameshift MSH6 mutation

 Sukru Cekic, Firdevs Aydin, Yasin Karali, Betül Berrin Sevinir, Ozlem Canoz, Kaan Boztug, Ekrem Unal, Sara Sebnem Kilic.
Pediatr Blood Cancer. 2023 Mar;70(3):e30008. doi: 10.1002/pbc.30008. Epub 2022 Sep 24.
Abstract: https://pubmed.ncbi.nlm.nih.gov/36151955/
2022

T-cell/histiocyte-rich large B-cell lymphoma in a patient with a novel frameshift MSH6 mutation

 Sukru Cekic, Firdevs Aydin, Yasin Karali, Betül Berrin Sevinir, Ozlem Canoz, Kaan Boztug, Ekrem Unal, Sara Sebnem Kilic.
Pediatr Blood Cancer. 2022 Sep 24:e30008. doi: 10.1002/pbc.30008. Online ahead of print.
Abstract: https://pubmed.ncbi.nlm.nih.gov/36151955/
2022

Human repair-related Schwann cells adopt functions of antigen-presenting cells in vitro

 Jakob Berner, Tamara Weiss, Helena Sorger, Fikret Rifatbegovic, Max Kauer, Reinhard Windhager, Alexander Dohnal, Peter F Ambros, Inge M Ambros, Kaan Boztug, Peter Steinberger, Sabine Taschner-Mandl.
Glia. 2022 Dec;70(12):2361-2377. doi: 10.1002/glia.24257. Epub 2022 Aug 17.
Abstract: https://pubmed.ncbi.nlm.nih.gov/36054432/
2022

Human repair-related Schwann cells adopt functions of antigen-presenting cells in vitro

 Jakob Berner, Tamara Weiss, Helena Sorger, Fikret Rifatbegovic, Max Kauer, Reinhard Windhager, Alexander Dohnal, Peter F Ambros, Inge M Ambros, Kaan Boztug, Peter Steinberger, Sabine Taschner-Mandl.
Glia. 2022 Dec;70(12):2361-2377. doi: 10.1002/glia.24257. Epub 2022 Aug 17.
Abstract: https://pubmed.ncbi.nlm.nih.gov/36054432/
2022

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor

 Fiona Poyer, Raúl Jimenez Heredia, Wolfgang Novak, Petra Zeitlhofer, Karin Nebral, Michael N Dworzak, Oskar A Haas, Kaan Boztug, Leo Kager.
Front Immunol. 2022 Jun 24;13:869047. doi: 10.3389/fimmu.2022.869047. eCollection 2022.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35812385/
2022

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor

 Fiona Poyer, Raúl Jimenez Heredia, Wolfgang Novak, Petra Zeitlhofer, Karin Nebral, Michael N Dworzak, Oskar A Haas, Kaan Boztug, Leo Kager.
Front Immunol. 2022 Jun 24;13:869047. doi: 10.3389/fimmu.2022.869047. eCollection 2022.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35812385/
2022

Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient

 Khashayar Danandeh, Parnian Jabbari, Elham Rayzan, Samaneh Zoghi, Sepideh Shahkarami, Raul Jimenez Heredia, Ana Krolo, Bibi Shahin Shamsian, Kaan Boztug, Nima Rezaei.
Endocr Metab Immune Disord Drug Targets. 2022;22(10):1040-1046. doi: 10.2174/1871530322666220407091356.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35392793/
2022

Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient

 Khashayar Danandeh, Parnian Jabbari, Elham Rayzan, Samaneh Zoghi, Sepideh Shahkarami, Raul Jimenez Heredia, Ana Krolo, Bibi Shahin Shamsian, Kaan Boztug, Nima Rezaei.
Endocr Metab Immune Disord Drug Targets. 2022;22(10):1040-1046. doi: 10.2174/1871530322666220407091356.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35392793/
2022

Chronic or severe enteropathy and immunodeficiency: be prepared for a rara avis

 Katrin Weber, Yvonne Zeißig, Cornelie Haag, Renate Schmelz, Julia Pazmandi, Artem Kalinichenko, Kaan Boztug, Sebastian Zeißig, Daniela Aust, Martin W Laass, Catharina Schuetz.
Z Gastroenterol. 2022 Nov;60(11):1668-1677. doi: 10.1055/a-1709-5024. Epub 2022 Mar 16.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35297030/
2022

Chronic or severe enteropathy and immunodeficiency: be prepared for a rara avis

 Katrin Weber, Yvonne Zeißig, Cornelie Haag, Renate Schmelz, Julia Pazmandi, Artem Kalinichenko, Kaan Boztug, Sebastian Zeißig, Daniela Aust, Martin W Laass, Catharina Schuetz.
Z Gastroenterol. 2022 Mar 16. doi: 10.1055/a-1709-5024. Online ahead of print.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35297030/
2022

Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency

 Naz Surucu Yilmaz, Sevgi Bilgic Eltan, Basak Kayaoglu, Busranur Geckin, Raul Jimenez Heredia, Asena Pinar Sefer, Ayca Kiykim, Ercan Nain, Nurhan Kasap, Omer Dogru, Ayse Deniz Yucelten, Leyla Cinel, Gulsun Karasu, Akif Yesilipek, Betul Sozeri, Goksu Gokberk Kaya, Ismail Cem Yilmaz, Ilayda Baydemir, Yagmur Aydin, Deniz Cansen Kahraman, Matthias Haimel, Kaan Boztug, Elif Karakoc-Aydiner, Ihsan Gursel, Ahmet Ozen, Safa Baris, Mayda Gursel.
J Clin Immunol. 2022 Apr;42(3):582-596. doi: 10.1007/s10875-021-01176-3. Epub 2022 Jan 14.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35028801/
2022

Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency

 Naz Surucu Yilmaz, Sevgi Bilgic Eltan, Basak Kayaoglu, Busranur Geckin, Raul Jimenez Heredia, Asena Pinar Sefer, Ayca Kiykim, Ercan Nain, Nurhan Kasap, Omer Dogru, Ayse Deniz Yucelten, Leyla Cinel, Gulsun Karasu, Akif Yesilipek, Betul Sozeri, Goksu Gokberk Kaya, Ismail Cem Yilmaz, Ilayda Baydemir, Yagmur Aydin, Deniz Cansen Kahraman, Matthias Haimel, Kaan Boztug, Elif Karakoc-Aydiner, Ihsan Gursel, Ahmet Ozen, Safa Baris, Mayda Gursel.
J Clin Immunol. 2022 Apr;42(3):582-596. doi: 10.1007/s10875-021-01176-3. Epub 2022 Jan 14.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35028801/
2022

Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

 Lin Wang, Dominik Aschenbrenner, Zhiyang Zeng, Xiya Cao, Daniel Mayr, Meera Mehta, Melania Capitani, Neil Warner, Jie Pan, Liren Wang, Qi Li, Tao Zuo, Sarit Cohen-Kedar, Jiawei Lu, Rico Chandra Ardy, Daniel J Mulder, Dilan Dissanayake, Kaiyue Peng, Zhiheng Huang, Xiaoqin Li, Yuesheng Wang, Xiaobing Wang, Shuchao Li, Samuel Bullers, Anís N Gammage, Klaus Warnatz, Ana-Iris Schiefer, Gergely Krivan, Vera Goda, Walter H A Kahr, Mathieu Lemaire, Genomics England Research Consortium, Chien-Yi Lu, Iram Siddiqui, Michael G Surette, Daniel Kotlarz, Karin R Engelhardt, Helen R Griffin, Robert Rottapel, Hélène Decaluwe, Ronald M Laxer, Michele Proietti, Sophie Hambleton, Suzanne Elcombe, Cong-Hui Guo, Bodo Grimbacher, Iris Dotan, Siew C Ng, Spencer A Freeman, Scott B Snapper, Christoph Klein, Kaan Boztug, Ying Huang, Dali Li, Holm H Uhlig, Aleixo M Muise.
Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-021-00998-6.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34987219/
2022

Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

 Lin Wang, Dominik Aschenbrenner, Zhiyang Zeng, Xiya Cao, Daniel Mayr, Meera Mehta, Melania Capitani, Neil Warner, Jie Pan, Liren Wang, Qi Li, Tao Zuo, Sarit Cohen-Kedar, Jiawei Lu, Rico Chandra Ardy, Daniel J Mulder, Dilan Dissanayake, Kaiyue Peng, Zhiheng Huang, Xiaoqin Li, Yuesheng Wang, Xiaobing Wang, Shuchao Li, Samuel Bullers, Anís N Gammage, Klaus Warnatz, Ana-Iris Schiefer, Gergely Krivan, Vera Goda, Walter H A Kahr, Mathieu Lemaire, Genomics England Research Consortium, Chien-Yi Lu, Iram Siddiqui, Michael G Surette, Daniel Kotlarz, Karin R Engelhardt, Helen R Griffin, Robert Rottapel, Hélène Decaluwe, Ronald M Laxer, Michele Proietti, Sophie Hambleton, Suzanne Elcombe, Cong-Hui Guo, Bodo Grimbacher, Iris Dotan, Siew C Ng, Spencer A Freeman, Scott B Snapper, Christoph Klein, Kaan Boztug, Ying Huang, Dali Li, Holm H Uhlig, Aleixo M Muise.
Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-021-00998-6.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34987219/
Year
Paper
2021
Untersmayr E, Förster-Waldl E, Bonelli M, Boztug K, Brunner PM, Eiwegger T, Eller K, Göschl L, Grabmeier-Pfistershammer K, Hötzenecker W, Jordakieva G, Moschen AR, Pfaller B, Pickl W, Reinisch W, Wiedermann U, Klimek L, Bergmann KC, Brehler R, Pfützner W, Novak N, Merk H, Rabe U, Schlenter W, Ring J, Wehrmann W, Mülleneisen N, Wrede H, Fuchs T, Jensen-Jarolim E. Immunologically relevant aspects of the new COVID-19 vaccines-an ÖGAI (Austrian Society for Allergology and Immunology) and AeDA (German Society for Applied Allergology) position paper. Allergo J Int. 2021;30(5):155-168. doi: 10.1007/s40629-021-00178-2. Epub 2021 Jun 18.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34178577/
2021
Shafeghat M, Esmaeilzadeh H, Sadeghalvad M, Rayzan E, Zoghi S, Shahkarami S, Heredia Jimenez R, Krolo A, Boztug K, Rezaei N. A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations. Allergol Immunopathol (Madr). 2021 Jul 1;49(4):91-97. doi: 10.15586/aei.v49i4.194. eCollection 2021.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34224223/
2021
Neehus AL, Moriya K, Nieto-Patlán A, Le Voyer T, Lévy R, Özen A, Karakoc-Aydiner E, Baris S, Yildiran A, Altundag E, Roynard M, Haake K, Migaud M, Dorgham K, Gorochov G, Abel L, Lachmann N, Dogu F, Haskologlu S, İnce E, El-Benna J, Uzel G, Kiykim A, Boztug K, Roderick MR, Shahrooei M, Brogan PA, Abolhassani H, Hancioglu G, Parvaneh N, Belot A, Ikinciogullari A, Casanova JL, Puel A, Bustamante J. Impaired respiratory burst contributes to infections in PKCδ-deficient patients. J Exp Med. 2021 Sep 6;218(9):e20210501. doi: 10.1084/jem.20210501. Epub 2021 Jul 15.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34264265/
2021
Shahin T, Kuehn HS, Shoeb MR, Gawriyski L, Giuliani S, Repiscak P, Hoeger B, Yüce Petronczki Ö, Bal SK, Zoghi S, Dmytrus J, Seruggia D, Castanon I, Rezaei N, Varjosalo M, Halbritter F, Rosenzweig SD, Boztug K. Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity. Sci Immunol. 2021 Nov 26;6(65):eabe3981. doi: 10.1126/sciimmunol.abe3981. Epub 2021 Nov 26.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34826259/
2021
Bayram O, Haskologlu S, Bayrakoğlu D, Bal SK, Islamoglu C, Cipe FE, Kendirli T, Kursun N, Guner SN, Yildiran A, Bozdogan G, Yuksek M, Reisli I, Dalva K, Aytekin C, Boztug K, Dogu F, Ikinciogullari A. Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes. J Clin Immunol. 2021 Oct;41(7):1563-1573. doi: 10.1007/s10875-021-01062-y. Epub 2021 Jun 10.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34114123/
2021
Dupré L, Boztug K, Pfajfer L. Actin Dynamics at the T Cell Synapse as Revealed by Immune-Related Actinopathies. Front Cell Dev Biol. 2021 Jun 24;9:665519. doi: 10.3389/fcell.2021.665519. eCollection 2021.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34249918/
2021
Cagdas D, Halacli SO, Tan C, Esenboga S, Karaatmaca B, Cetinkaya PG, Balcı-Hayta B, Ayhan A, Uner A, Orhan D, Boztug K, Ozen S, Topaloglu R, Sanal O, Tezcan I. Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the Literature. J Allergy Clin Immunol Pract. 2021 Oct;9(10):3752-3766.e4. doi: 10.1016/j.jaip.2021.05.032. Epub 2021 Jun 17.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34146746/
2021
Mehic D, Tolios A, Hofer S, Ay C, Haslacher H, Downes K, Haimel M, Pabinger I, Gebhart J. Thrombomodulin in patients with mild to moderate bleeding tendency. Haemophilia. 2021 Nov;27(6):1028-1036. doi: 10.1111/hae.14433. Epub 2021 Oct 10.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34628704/
2021
Shahin T, Kuehn HS, Shoeb MR, Gawriyski L, Giuliani S, Repiscak P, Hoeger B, Yüce Petronczki O, Köstel Bal S, Zoghi S, Dmytrus J, Seruggia D, Castanon I, Rezaei N, Varjosalo M, Halbritter F, Rosenzweig SD, Boztug K. Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity. Sci Immunol. 2021 Nov 26;6(65):eabe3981. doi: 10.1126/sciimmunol.abe3981. Epub 2021 Nov 26.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34826259/
2021
Haimel H, Pazmandi J, Jiménez Heredia R, Dmytrus J, Köstel Bal S, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JQ, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K. Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity. J Allergy Clin Immunol . 2021 May 12;S0091-6749(21)00732-6. doi: 10.1016/j.jaci.2021.04.033. Online ahead of print.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33991581/ _blank
2021
Yucel E, Karakus IS, Krolo A, Kiykim A, Heredia RJ, Tamay Z, Cipe FE, Karakoc-Aydiner E, Ozen A, Karaman S, Boztug K, Baris S. Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis. J Clin Immunol. 2021 Jan;41(1):59-65. doi: 10.1007/s10875-020-00878-4. Epub 2020 Oct 6.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33025377/
2021
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. The Human Phenotype Ontology in 2021. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33264411/
2021
Kuehn HS, Niemela JE, Stoddard J, Mannurita SC, Shahin T, Goel S, Hintermeyer M, Heredia RJ, Garofalo M, Lucas L, Singh S, Tondo A, Jacobs Z, Gahl WA, Latour S, Verbsky J, Routes J, Cunningham-Rundles C, Boztug K, Gambineri E, Fleisher TA, Chandrakasan S, Rosenzweig SD. Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies. Blood. 2021 Jan 21;137(3):349-363. doi: 10.1182/blood.2020007292.
Abstract: https://pubmed.ncbi.nlm.nih.gov/32845957/
2021
Mehic D, Tolios A, Hofer S, Ay C, Haslacher H, Rejtö J, Ouwehand WH, Downes K, Haimel M, Pabinger I, Gebhart J. Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency. Blood Adv. 2021 Jan 26;5(2):391-398. doi: 10.1182/bloodadvances.2020003464.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33496735/
2021
Shaka Z, Mojtabavi H, Rayzan E, Zoghi S, Shahkarami S, Raul JH, Sedighi I, Boztug K, Rezaei N. Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male. Allergol Immunopathol (Madr). 2021 Mar 1;49(2):80-83. doi: 10.15586/aei.v49i2.62. eCollection 2021.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33641298/
2021
Kogler H, Novak W, Vécsei A, Zachbauer C, Huber WD, Lakatos K, Woeran K, Stift J, Boztug K, Kager L. Occurrence of autoimmune pancreatitis after chronic immune thrombocytopenia in a Caucasian adolescent. Clin J Gastroenterol. 2021 Mar 20. doi: 10.1007/s12328-021-01383-w. Online ahead of print.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33743140/
2021
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33782605/
2021
Kalinichenko A, Perinetti Casoni G, Dupré L, Trotta L, Huemer J, Galgano D, German Y, Haladik B, Pazmandi J, Thian M, Yüce Petronczki Ö, Chiang SC, Taskinen M, Hekkala A, Kauppila S, Lindgren O, Tapiainen T, Kraakman MJ, Vettenranta K, Lomakin AJ, Saarela J, Seppänen MRJ, Bryceson YT, Boztug K. RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis. Blood. 2021 Apr 15;137(15):2033-2045. doi: 10.1182/blood.2020008738.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33513601/
2021
Pirch S, Müller F, Iofinova E, Pazmandi J, Hütter CVR, Chiettini M, Sin C, Boztug K, Podkosova I, Kaufmann H, Menche J. The VRNetzer platform enables interactive network analysis in Virtual Reality. Nat Commun. 2021 Apr 23;12(1):2432. doi: 10.1038/s41467-021-22570-w.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33893283/
2021
Cagdas D, Mayr D, Baris S, Worley L, Langley DB, Metin A, Aytekin ES, Atan R, Kasap N, Bal SK, Dmytrus J, Heredia RJ, Karasu G, Torun SH, Toyran M, Karakoc-Aydiner E, Christ D, Kuskonmaz B, Uçkan-Çetinkaya D, Uner A, Oberndorfer F, Schiefer AI, Uzel G, Deenick EK, Keller B, Warnatz K, Neven B, Durandy A, Sanal O, Ma CS, Özen A, Stepensky P, Tezcan I, Boztug K, Tangye SG. Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency. J Clin Immunol. 2021 Apr 30. doi: 10.1007/s10875-021-01031-5. Online ahead of print.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33929673/
2020
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW, Warnatz K, Grimbacher B; NIHR BioResource. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9.
Abstract: https://pubmed.ncbi.nlm.nih.gov/32278790/
2020
Salzer E, Zoghi S, Kiss MG, Kage F, Rashkova C, Stahnke S, Haimel M, Platzer R, Caldera M, Ardy RC, Hoeger B, Block J, Medgyesi D, Sin C, Shahkarami S, Kain R, Ziaee V, Hammerl P, Bock C, Menche J, Dupré L, Huppa JB, Sixt M, Lomakin A, Rottner K, Binder CJ, Stradal TEB, Rezaei N, Boztug K. The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity. Sci Immunol. 2020 Jul 10;5(49):eabc3979. doi: 10.1126/sciimmunol.abc3979.
Abstract: https://pubmed.ncbi.nlm.nih.gov/32646852/
2020
Krüger R, Martin E, Dmytrus J, Feiterna-Sperling C, Meisel C, Unterwalder N, Kölsch U, Wahn V, Hofmann J, Korn P, Latour S, Boztug K, von Bernuth H. CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman. Front Immunol. 2020 Aug 4;11:1593. doi: 10.3389/fimmu.2020.01593.
Abstract: https://pubmed.ncbi.nlm.nih.gov/32849540/
2020
Hanitsch L, Baumann U, Boztug K, Burkhard-Meier U, Fasshauer M, Habermehl P, Hauck F, Klock G, Liese J, Meyer O, Müller R, Pachlopnik-Schmid J, Pfeiffer- Kascha D, Warnatz K, Wehr C, Wittke K, Niehues T, von Bernuth H. Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline. Eur J Immunol. 2020 Oct;50(10):1432-1446. doi: 10.1002/eji.202048713. Epub 2020 Sep 9.
Abstract: https://pubmed.ncbi.nlm.nih.gov/32845010/
2020
Thian M, Hoeger B, Kamnev A, Poyer F, Köstel Bal S, Caldera M, Jiménez-Heredia R, Huemer J, Pickl WF, Groß M, Ehl S, Lucas CL, Menche J, Hutter C, Attarbaschi A, Dupré L, Boztug K. Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation. Haematologica. 2020 Oct 1;105(10):e488. doi: 10.3324/haematol.2019.231399.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33054089/
2020
Yucel E, Karakus IS, Krolo A, Kiykim A, Heredia RJ, Tamay Z, Cipe FE, Karakoc-Aydiner E, Ozen A, Karaman S, Boztug K, Baris S. Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis. J Clin Immunol. 2021 Jan;41(1):59-65. doi: 10.1007/s10875-020-00878-4. Epub 2020 Oct 6.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33025377/
2020
Lomakin AJ, Cattin CJ, Cuvelier D, Alraies Z, Molina M, Nader GPF, Srivastava N, Sáez PJ, Garcia-Arcos JM, Zhitnyak IY, Bhargava A, Driscoll MK, Welf ES, Fiolka R, Petrie RJ, De Silva NS, González-Granado JM, Manel N, Lennon- Duménil AM, Müller DJ, Piel M. The nucleus acts as a ruler tailoring cell responses to spatial constraints. Science. 2020 Oct 16;370(6514):eaba2894. doi: 10.1126/science.aba2894.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33060332/
2020
Süleyman M, Tan Ç, Uner A, İnkaya Ç, Aytaç S, Büyükaşık Y, Boztug K, Tezcan İ, Cagdas D. Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features. Immunol Invest. 2020 Dec 2:1-9. doi: 10.1080/08820139.2020.1853153. Epub ahead of print.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33705245/
2020
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency. Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738.
Abstract: https://pubmed.ncbi.nlm.nih.gov/32603431/
2020
Khalili N, Mohammadzadeh I, Khalili N, Heredia RJ, Zoghi S, Boztug K, Rezaei N. BCGitis as the primary manifestation of chronic granulomatous disease. IDCases. 2020 Dec 29;23:e01038. doi: 10.1016/j.idcr.2020.e01038.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33425681/
2020
Ghosh S, Köstel Bal S, Edwards E S J, Pillay B, Jimenez-Heredia R, Rao G, Erol Cipe F, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price D A, Zhang Y, Oler A J, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Kumar Gupta A, Hauck F, Hoepelman A, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger, R, Meisel R, Thomas Oommen P, Morris E C, Neven B, Worth A J J, van Montfrans J M, Fraaij P, Choo S, Dogu F, Davies E G, Burns S, Dueckers G, Perez Becker R, von Bernuth H, Latour S, Faraci M, Gattorno M, Su H, Pan-Hammarström, Q, Hammarström L, Lenardo M J, Ma C S, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye S G, Lankester A C, Boztug K. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency. Blood. 2020 Dec 3;136(23):2638-2655. Doi: 10.1182/blood.2020006738.
Abstract: https://pubmed.ncbi.nlm.nih.gov/32603431/
2020
Lau A, Avery DT, Jackson K, Lenthall H, Volpi S, Brigden H, Russell AJ, Bier J, Reed JH, Smart JM, Cole T, Choo S, Gray PE, Berglund LJ, Hsu P, Wong M, O'Sullivan M, Boztug K, Meyts I, Uzel G, Notarangelo LD, Brink R, Goodnow CC, Tangye SG, Deenick EK. Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production. J Exp Med. 2020 Feb 3;217(2):e20191336. doi: 10.1084/jem.20191336.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31841125
2020
Çipe FE, Aydoğmuş Ç, Baskın K, Keskindemirci G, Garncarz W, Boztuğ K. A rare case of syndromic severe congenital neutropenia: JAGN1 mutation. Turk J Pediatr. 2020;62(2):326-331. doi: 10.24953/turkjped.2020.02.022.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/32419428
2020
Gasteiger LM, Robinson PN, Pazmandi J, Boztug K, Seppänen MRJ, Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID). Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms. J Allergy Clin Immunol Pract. 2020 May;8(5):1778. doi: 10.1016/j.jaip.2020.02.019.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/32389282
2020
Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc- Aydiner E, Rivière JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Pérez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarström L, Dogu F, Haskologlu S, İkincioğulları AI, Köstel Bal S, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Avbelj Stefanija M, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MRJ, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies. Long- term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. J Allergy Clin Immunol. 2020 May;145(5):1452-1463. doi: 10.1016/j.jaci.2019.12.896. Epub 2019 Dec 27.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31887391
2020
Göschl L, Winkler S, Dmytrus J, Heredia RJ, Lagler H, Ramharter M, Scheinecker C, Bonelli M, Schmetterer K, Pickl WF, Grabmeier-Pfistershammer K, Hershfield MS, Boztug K, Förster-Waldl E, Gualdoni GA. Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle. J Clin Immunol. 2020 Jan;40(1):223-226. doi: 10.1007/s10875-019-00700-w. Epub 2019 Nov 4.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31686313
2020
Köstel Bal S, Pazmandi J, Boztug K, Özen S. Rheumatological manifestations in inborn errors of immunity. Pediatr Res. 2020 Jan;87(2):293-299. doi: 10.1038/s41390-019-0600-8. Epub 2019 Oct 3.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31581173
2019
Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Pérez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarström L, Dogu F, Haskologlu S, İkincioğulları AI, Bal SK, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Stefanija MA, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MR, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation (EBMT) and the European Society of Immunodeficiencies (ESID). Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. J Allergy Clin Immunol. 2019 Dec 27. pii: S0091-6749(19)32603-X. doi: 10.1016/j.jaci.2019.12.896.
Abstract: https://pubmed.ncbi.nlm.nih.gov/31887391/
2019
Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K. CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644.
Abstract: https://pubmed.ncbi.nlm.nih.gov/31501153/
2019
Kutluǧ Ş, Boztuǧ K, Yıldıran A. Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation. Cent Eur J Immunol. 2019;44(3):332-335. doi: 10.5114/ceji.2019.89613.
Abstract: https://pubmed.ncbi.nlm.nih.gov/31871423/
2019
Göschl L, Winkler S, Dmytrus J, Heredia RJ, Lagler H, Ramharter M, Scheinecker C, Bonelli M, Schmetterer K, Pickl WF, Grabmeier-Pfistershammer K, Hershfield MS, Boztug K, Förster-Waldl E, Gualdoni GA. Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle. J Clin Immunol. 2019 Nov 4. doi: 10.1007/s10875-019-00700-w.
Abstract: https://pubmed.ncbi.nlm.nih.gov/31686313/
2019
Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource, Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.
Abstract: https://pubmed.ncbi.nlm.nih.gov/31064749/
2019
Conde CD, Petronczki ÖY, Baris S, Willmann KL, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Förster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martínez J, Loizou JI, Ozen A, van der Burg M, Boztug K. Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress. J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903.
Abstract: https://pubmed.ncbi.nlm.nih.gov/31449058/
2019
Cagdas D, Halaçlı SO, Tan Ç, Lo B, Çetinkaya PG, Esenboğa S, Karaatmaca B, Matthews H, Balcı-Hayta B, Arıkoğlu T, Ezgü F, Aladağ E, Saltık-Temizel İN, Demir H, Kuşkonmaz B, Okur V, Gümrük F, Göker H, Çetinkaya D, Boztuğ K, Lenardo M, Sanal Ö, Tezcan İ. A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects. J Clin Immunol. 2019 Oct;39(7):726-738. doi: 10.1007/s10875-019-00677-6.
Abstract: https://pubmed.ncbi.nlm.nih.gov/31432443/
2019
Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M,Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M,Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD,Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD,Thaventhiran JED. Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. J Exp Med. 2019 Jun 24. pii:jem.20190344. doi: 10.1084/jem.20190344. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31235509
2019
Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, MedgyesiD, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, WilkieAOM, Tezcan I, Uhlig HH, Boztug K. Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function. Haematologica. 2019 Mar;104(3):609-621. doi:10.3324/haematol.2018.194233. Epub 2018 Oct 11.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30309848
2019
Shabani M, Aleyasin S, Kashef S, Zoghi S, Deswarte C, Casanova JL, BustamanteJ, Rezaei N. A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate. J Clin Immunol. 2019Feb;39(2):127-130. doi: 10.1007/s10875-019-00595-7. Epub 2019 Feb 5.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30719685
2019
Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Yüce Petronczki Ö, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Loizou JI, Kain R,Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E,Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, MedgyesiD, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K. Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis. Nat Commun. 2019 Jul 15;10(1):3106.doi: 10.1038/s41467-019-10812-x.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31308374
2019
Schiefer AI, Salzer E, Füreder A, Szepfalusi Z, Müller-Sacherer T, Huber WD, Michel-Behnke I, Lawitschka A, Pichler H, Mann G, Hutter C, Simonitsch-Klupp I,Attarbaschi A. PD-L1 and PD1 expression in post-transplantation lymphoproliferative disease (PTLD) of childhood and adolescence: An inter- and intra-individual descriptive study covering the whole spectrum of PTLD categories. Cancer Med. 2019 Jul 3. doi: 10.1002/cam4.2394. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31269329
2019
Pazmandi J, Kalinichenko A, Ardy RC, Boztug K. Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms. Immunol Rev. 2019 Jan;287(1):162-185. doi: 10.1111/imr.12726. Review.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30565237
2019
Kocacik Uygun DF, Uygun V, Daloğlu H, Öztürkmen S, Karasu G, Reisli İ, Sayar E, Yüksekkaya HA, Glocker EO, Boztuğ K, Yeşilipek A. Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement? J Pediatr Hematol Oncol. 2019Jan;41(1):64-66. doi: 10.1097/MPH.0000000000001165.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29683948
2019
Fauster A, Rebsamen M, Willmann KL, César-Razquin A, Girardi E, Bigenzahn JW,Schischlik F, Scorzoni S, Bruckner M, Konecka J, Hörmann K, Heinz LX, Boztug K,Superti-Furga G. Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking. Cell Death Differ. 2019Jun;26(6):1138-1155. doi: 10.1038/s41418-018-0192-6. Epub 2018 Sep 20.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30237509
2019
Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, SchuetzC, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C,Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG,Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, DbaiboG, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM,Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C,Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, ChandrakasanS, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O,Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B,Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR,Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1970-1985.e4. doi: 10.1016/j.jaip.2019.02.038. Epub 2019 Mar 12.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30877075
2019
Edwards ESJ, Bier J, Cole TS, Wong M, Hsu P, Berglund LJ, Boztug K, Lau A,Gostick E, Price DA, O'Sullivan M, Meyts I, Choo S, Gray P, Holland SM, DeenickEK, Uzel G, Tangye SG. Activating PIK3CD mutations impair human cytotoxiclymphocyte differentiation and function and EBV immunity. J Allergy Clin Immunol.2019 Jan;143(1):276-291.e6. doi: 10.1016/j.jaci.2018.04.030. Epub 2018 May 22.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29800648
2019
Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F,Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, NotarangeloLD. F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects. J Allergy Clin Immunol. 2019Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30822429
2019
Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H,Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, NotarangeloLD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4(+) T cells. JAllergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033.Epub 2019 Feb 6.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30738173
2018
Zoghi S, Ziaee V, Hirschmugl T, Jimenez-Heredia R, Krolo A, Boztug K, Rezaei N. Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus. Allergol Immunopathol (Madr). 2018 Nov - Dec;46(6):594-598. doi: 10.1016/j.aller.2018.02.004. Epub 2018 May 5.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29739689
2018
Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, Kansu A, Berberoğlu M. Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes. Exp Clin Endocrinol Diabetes. 2018 Nov;126(10):612-618. doi: 10.1055/s-0043-120571. Epub 2017 Nov 28.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29183106
2018
Schwinger W, Urban C, Ulreich R, Sperl D, Karastaneva A, Strenger V, Lackner H, Boztug K, Albert MH, Benesch M, Seidel MG. The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV. Front Immunol. 2018 Nov 2;9:2554. doi: 10.3389/fimmu.2018.02554. eCollection 2018. Review.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30450104
2018
Sarkar K, Han SS, Wen KK, Ochs HD, Dupré L, Seidman MM, Vyas YM. R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome. J Allergy Clin Immunol. 2018 Jul;142(1):219-234. doi: 10.1016/j.jaci.2017.11.023. Epub 2017 Dec 15.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29248492
2018
Ronceray L, Friesenbichler W, Hutter C, Lakatos K, Krizmanich W, Amann G, Boztug K, Kager L, Mann G, Attarbaschi A. Thoracic Actinomycosis With Infiltration of the Spine: An Oncological Pitfall. J Pediatr Hematol Oncol. 2018 Aug;40(6):468-471. doi: 10.1097/MPH.0000000000001035.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29240031
2018
Fauster A, Rebsamen M, Willmann KL, César-Razquin A, Girardi E, Bigenzahn JW, Schischlik F, Scorzoni S, Bruckner M, Konecka J, Hörmann K, Heinz LX, Boztug K, Superti-Furga G. Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking. Cell Death Differ. 2018 Sep 20. doi: 10.1038/s41418-018-0192-6. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30237509
2018
Avery DT, Kane A, Nguyen T, Lau A, Nguyen A, Lenthall H, Payne K, Shi W, Brigden H, French E, Bier J, Hermes JR, Zahra D, Sewell WA, Butt D, Elliott M, Boztug K, Meyts I, Choo S, Hsu P, Wong M, Berglund LJ, Gray P, O'Sullivan M, Cole T, Holland SM, Ma CS, Burkhart C, Corcoran LM, Phan TG, Brink R, Uzel G, Deenick EK, Tangye SG. Germline-activating mutations in PIK3CD compromise B cell development and function. J Exp Med. 2018 Aug 6;215(8):2073-2095. doi: 10.1084/jem.20180010. Epub 2018 Jul 17.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30018075
2018
Farrokhi S, Shabani M, Aryan Z, Zoghi S, Krolo A, Boztug K, Rezaei N. MHC class II deficiency: Report of a novel mutation and special review. Allergol Immunopathol (Madr). 2018 May - Jun;46(3):263-275. doi: 10.1016/j.aller.2017.04.006. Epub 2017 Jul 1. Review.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/28676232
2018
Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum. J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29260357
2018
Hoeger B, Serwas NK, Boztug K. Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences. Front Immunol. 2018 Jan 18;8:1978. doi: 10.3389/fimmu.2017.01978. eCollection 2017. Review.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29403474
2018
Cipe FE, Aydogmus C, Serwas NK, Keskindemirci G, Boztuğ K. Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia. J Clin Immunol. 2018 Apr;38(3):273-277. doi: 10.1007/s10875-018-0487-x. Epub 2018 Mar 21.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed29564582
2018
van Rijn JM, Chandra Ardy R, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Ng M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K. Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency. Gastroenterology. 2018 Mar 29. pii: S0016-5085(18)30347-0. doi: 10.1053/j.gastro.2018.03.040. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29604290
2018
Serwas NK, Huemer J, Dieckmann R, Mejstrikova E, Garncarz W, Litzman J, Hoeger B, Zapletal O, Janda A, Bennett KL, Kain R, Kerjaschky D, Boztug K. CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils. Front Immunol. 2018 Mar 29;9:588. doi: 10.3389/fimmu.2018.00588. eCollection 2018.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/ 29651288
2018
Kocacik Uygun DF, Uygun V, Daloğlu H, Öztürkmen S, Karasu G, Reisli İ, Sayar E, Yüksekkaya HA, Glocker EO, Boztuğ K, Yeşilipek A. Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement? J Pediatr Hematol Oncol. 2018 Apr 20. doi: 10.1097/MPH.0000000000001165. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29683948
2018
Zoghi S, Ziaee V, Hirschmugl T, Jimenez-Heredia R, Krolo A, Boztug K, Rezaei N. Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus. Allergol Immunopathol (Madr). 2018 May 5. pii: S0301-0546(18)30047-8. doi: 10.1016/j.aller.2018.02.004. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29739689
2018
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ. ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. J Clin Immunol. 2018 May 9. doi: 10.1007/s10875-018-0496-9. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29744787
2018
Pfajfer L, Mair NK, Jiménez-Heredia R, Genel F, Gulez N, Ardeniz Ö, Hoeger B, Bal SK, Madritsch C, Kalinichenko A, Chandra Ardy R, Gerçeker B, Rey-Barroso J, Ijspeert H, Tangye SG, Simonitsch-Klupp I, Huppa JB, van der Burg M, Dupré L, Boztug K. Mutations affecting the actin regulator WDR1 lead to aberrant lymphoid immunity. J Allergy Clin Immunol. 2018 May 8. pii: S0091-6749(18)30694-8. doi: 10.1016/j.jaci.2018.04.023. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29751004
2018
Edwards ESJ, Bier J, Cole TS, Wong M, Hsu P, Berglund LJ, Boztug K, Lau A, Gostick E, Price DA, O'Sullivan M, Meyts I, Choo S, Gray P, Holland SM, Deenick EK, Uzel G, Tangye SG. Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation, function and EBV immunity. J Allergy Clin Immunol. 2018 May 22. pii: S0091-6749(18)30702-4. doi: 10.1016/j.jaci.2018.04.030. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29800648
2018
Maas C, Lüftinger R, Krois W, Matthes-Martin S, Bayer G, Boztug K, Metzelder M. EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease. Pediatr Blood Cancer. 2018 Jun 1:e27258. doi: 10.1002/pbc.27258. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/29856523
2017
Kager L, Bruce LJ, Zeitlhofer P, Flatt JF, Maia TM, Ribeiro ML, Fahrner B, Fritsch G, Boztug K, Haas OA. Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. Pediatr Blood Cancer. 2017 Mar;64(3). doi: 10.1002/pbc.26227. Epub 2016 Oct 8.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/27718309
2017
Fazel A, Kashef S, Aleyasin S, Harsini S, Karamizadeh Z, Zoghi S, Flores SK, Boztug K, Rezaei N. Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity. Allergol Immunopathol (Madr). 2017 Jan - Feb;45(1):82-86. doi: 10.1016/j.aller.2016.08.005. Epub 2016 Oct 24.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/27789066
2017
Erman B, Bilic I, Hirschmugl T, Salzer E, Boztug H, Sanal Ö, Çağdaş Ayvaz D, Tezcan I, Boztug K. Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing. Scand J Immunol. 2017 Mar;85(3):227-234. doi: 10.1111/sji.12523.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/28109013
2017
Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW. Clinical and Molecular Heterogeneity of RTEL1 Deficiency. Front Immunol. 2017 May 1;8:449. doi: 10.3389/fimmu.2017.00449. eCollection 2017. Erratum in: Front Immunol. 2017 Oct 02;8:1250.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/28507545
2017
Müller H, Jimenez-Heredia R, Krolo A, Hirschmugl T, Dmytrus J, Boztug K, Bock C. VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data. Nucleic Acids Res. 2017 May 17. doi: 10.1093/nar/gkx425. [Epub ahead of print]
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/28520890
2017
Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/28657829
2017
Farrokhi S, Shabani M, Aryan Z, Zoghi S, Krolo A, Boztug K, Rezaei N. MHC class II deficiency: Report of a novel mutation and special review. Allergol Immunopathol (Madr). 2017 Jul 1. pii: S0301-0546(17)30077-0. doi: 10.1016/j.aller.2017.04.006. [Epub ahead of print] Review.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/28676232
2017
Pfajfer L, Seidel MG, Houmadi R, Rey-Barroso J, Hirschmugl T, Salzer E, Antón IM, Urban C, Schwinger W, Boztug K, Dupré L. WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly. Blood. 2017 Oct 26;130(17):1949-1953. doi: 10.1182/blood-2017-04-777383. Epub 2017 Sep 13. No abstract available.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/28903942
2017
Kostel Bal S, Haskologlu S, Serwas NK, Islamoglu C, Aytekin C, Kendirli T, Kuloglu Z, Yavuz G, Dalgic B, Siklar Z, Kansu A, Ensari A, Boztug K, Dogu F, Ikinciogullari A. Multiple Presentations of LRBA Deficiency: a Single-Center Experience. J Clin Immunol. 2017 Nov;37(8):790-800. doi: 10.1007/s10875-017-0446-y. Epub 2017 Sep 27.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/28956255
2017
Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW. Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency. Front Immunol. 2017 Oct 2;8:1250. doi: 10.3389/fimmu.2017.01250. eCollection 2017.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/28989339
2016
Willmann KL, Sacco R, Martins R, Garncarz W, Krolo A, Knapp S, Bennett KL, Boztug K. Expanding the Interactome of the Noncanonical NF-_B Signaling Pathway. J Proteome Res. 2016 Sep 2;15(9):2900-9. doi: 10.1021/acs.jproteome.5b01004.
Abstract: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295629/
2016
Shokri S, Nabavi M, Hirschmugl T, Aghamohammadi A, Arshi S, Bemanian MH, Fallahpour M, Molatefi R, Rekabi M, Eslami N, Ahmadian J, Darabi K, Sedighi GR, Monajemzadeh M, Modaresi M, Parvaneh N, Boztug K, Rezaei N. LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells. Acta Med Iran. 2016 Oct;54(10):620-623.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/27888588
2016
Salzer E, Santos-Valente E, Keller B, Warnatz K, Boztug K. Protein Kinase C _: a Gatekeeper of Immune Homeostasis. J Clin Immunol. 2016 Oct;36(7):631-40.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/27541826
2016
Salzer E, Cagdas D, Hons M, Mace EM, Garncarz W, Petronczki ÖY, Platzer R, Pfajfer L, Bilic I, Ban SA, Willmann KL, Mukherjee M, Supper V, Hsu HT, Banerjee PP, Sinha P, McClanahan F, Zlabinger GJ, Pickl WF, Gribben JG, Stockinger H, Bennett KL, Huppa JB, Dupré L, Sanal Ö, Jäger U, Sixt M, Tezcan I, Orange JS, Boztug K. RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. Nat Immunol. 2016 Dec;17(12):1352-1360. doi: 10.1038/ni.3575.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/27776107
2016
Kager L, Bruce LJ, Zeitlhofer P, Flatt JF, Maia TM, Ribeiro ML, Fahrner B, Fritsch G, Boztug K, Haas OA. Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. Pediatr Blood Cancer. 2016 Oct 8. doi: 10.1002/pbc.26227.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/27718309
2016
Fazel A, Kashef S, Aleyasin S, Harsini S, Karamizadeh Z, Zoghi S, Flores SK, Boztug K, Rezaei N. Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity. Allergol Immunopathol (Madr). 2016 Oct 24. pii: S0301-0546(16)30116-1.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/27789066
2016
Voelxen N, Wehr C, Gutenberger S, Keller B, Erlacher M, Dominguez-Conde C, Bertele D, Emmerich F, Pantic M, Jennings S, Rakhmanov M, Foerster C, Martens UM, Platzbecker U, Peter HH, Fisch P, Boztug K, Eibel H, Salzer U, Warnatz K. B-cell signaling in persistent polyclonal B lymphocytosis (PPBL). Immunol Cell Biol. 2016 May 31. doi: 10.1038/icb.2016.46.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/27126628
2016
Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, Hambleton S, Arkwright PD, French M, Blincoe AK, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Fulcher DA, Cook MC, Stepensky P, Boztug K, Beier R, Ikincioğullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG. Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets. J Exp Med. 2016 Jul 25;213(8):1589-608. doi: 10.1084/jem.20151467.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/27401342
2016
Kiykim A, Garncarz W, Karakoc-Aydiner E, Ozen A, Kiykim E, Yesil G, Boztug K, Baris S. Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. Clin Immunol. 2016 Feb 23;165:1-3. doi: 10.1016/j.clim.2016.02.008.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26916670
2016
Kager L, Minkov M, Zeitlhofer P, Fahrner B, Ratzinger F, Boztug K, Dossenbach-Glaninger A, Haas OA. Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia. Pediatr Blood Cancer. 2016 Jan 5. doi: 10.1002/pbc.25878.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26728349
2016
Boztug H, Hirschmugl T, Holter W, Lakatos K, Kager L, Trapin D, Pickl W, Förster-Waldl E, Boztug K. NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation. J Clin Immunol. 2016 Aug;36(6):533-40. doi: 10.1007/s10875-016-0306-1.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/27338827
2015
Szilagyi K, Gazendam RP, van Hamme JL, Tool AT, van Houdt M, Vos WA, Verkuijlen P, Janssen H, Belot A, Juillard L, Förster-Waldl E, Boztug K, Kraal G, de Winther MP, Kuijpers TW, van den Berg TK. Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1404-1407.e10. doi: 10.1016/j.jaci.2015.06.016. Epub 2015 Jul 30.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26233929
2015
Seidel MG, Hirschmugl T, Gamez-Diaz L, Schwinger W, Serwas N, Deutschmann A, Gorkiewicz G, Zenz W, Windpassinger C, Grimbacher B, Urban C, Boztug K. Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. J Allergy Clin Immunol. 2015 May;135(5):1384-90.e1-8. doi: 10.1016/j.jaci.2014.10.048. Epub 2014 Dec 22.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25539626
2015
Seidel MG, Boztug K, Haas OA. Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start? J Clin Immunol. 2015 Dec 10.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26661331
2015
Kuloglu Z, Kansu A, Serwas N, Demir A, Yaman A, Ensari A, Boztug K. Inflammatory bowel disease phenotype in a young girl with prolidase deficiency: A new spectrum of clinical manifestation. Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency. Genet Couns. 2015;26(2):205-11.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26349190
2015
Kooij G, Braster R, Koning JJ, Laan LC, van Vliet SJ, Los T, Eveleens AM, van der Pol SM, Förster-Waldl E, Boztug K, Belot A, Szilagyi K, van den Berg TK, van Buul JD, van Egmond M, de Vries HE, Cummings RD, Dijkstra CD, van Die I. Trichuris suis induces human non-classical patrolling monocytes via the mannose receptor and PKC: implications for multiple sclerosis. Acta Neuropathol Commun. 2015 Jul 25;3:45. doi: 10.1186/s40478-015-0223-1.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26205402
2015
Kiykim A, Ogulur I, Baris S, Salzer E, Karakoc-Aydiner E, Ozen AO, Garncarz W, Hirschmugl T, Krolo A, Yucelten AD, Boztug K, Barlan IB. Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency. J Clin Immunol. 2015 Aug;35(6):523-6. doi: 10.1007/s10875-015-0178-9. Epub 2015 Aug 2.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26233237
2015
Kiykim A, Baris S, Karakoc-Aydiner E, Ozen AO, Ogulur I, Bozkurt S, Ataizi CC, Boztug K, Barlan IB. G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia. J Pediatr Hematol Oncol. 2015 Nov;37(8):616-22. doi: 10.1097/MPH.0000000000000441.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26479985
2015
Beser OF, Conde CD, Serwas NK, Cokugras FC, Kutlu T, Boztug K, Erkan T. Clinical features of interleukin 10 receptor gene mutations in children with very early-onset inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):332-8. doi: 10.1097/MPG.0000000000000621.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25373860
2015
Woutsas S, Aytekin C, Salzer E, Conde CD, Apaydin S, Pichler H, Memaran-Dadgar N, Hosnut FO, Förster-Waldl E, Matthes S, Huber WD, Lion T, Holter W, Bilic I, Boztug K. Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. Blood. 2015 Mar 5;125(10):1674-6. doi: 10.1182/blood-2014-08-595397.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25745186
2015
Serwas NK, Kansu A, Santos-Valente E, Kulo_lu Z, Demir A, Yaman A, Yaneth Gamez Diaz L, Artan R, Sayar E, Ensari A, Grimbacher B, Boztug K. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflamm Bowel Dis. 2015 Jan;21(1):40-7. doi: 10.1097/MIB.0000000000000266.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25479458
2015
Ma CS, Wong N, Rao G, Avery DT, Torpy J, Hambridge T, Bustamante J, Okada S, Stoddard JL, Deenick EK, Pelham SJ, Payne K, Boisson-Dupuis S, Puel A, Kobayashi M, Arkwright PD, Kilic SS, El Baghdadi J, Nonoyama S, Minegishi Y, Mahdaviani SA, Mansouri D, Bousfiha A, Blincoe AK, French MA, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Smart JM, Fulcher DA, Cook MC, Phan TG, Stepensky P, Boztug K, Kansu A, _kincio_ullari A, Baumann U, Beier R, Roscioli T, Ziegler JB, Gray P, Picard C, Grimbacher B, Warnatz K, Holland SM, Casanova JL, Uzel G, Tangye SG. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies. J Allergy Clin Immunol. 2015 Jul 7. pii: S0091-6749(15)00787-3. doi: 10.1016/j.jaci.2015.05.036.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26162572
2015
Erman B, Bilic I, Hirschmugl T, Salzer E, Çagdas D, Esenboga S, Akcoren Z, Sanal O, Tezcan I, Boztug K. Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R. Haematologica. 2015 Jun;100(6):e216-9. doi: 10.3324/haematol.2014.120980. Epub 2015 Mar 13.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25769540
2015
Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskolo_lu _, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, _kincio_ulları A, Al-Herz W, Helminen M, Do_u F, Casanova JL, Boztu_ K, Notarangelo LD. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18;372(25):2409-22. doi: 10.1056/NEJMoa1413462.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26083206
2015
Cipe FE, Aydogmus C, Serwas NK, Tu_cu D, Demirkaya M, Biçici FA, Hocaoglu AB, Do_u F, Boztu_ K. ITK deficiency: How can EBV be treated before lymphoma? Pediatr Blood Cancer. 2015 Jul 14. doi: 10.1002/pbc.25648.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/26174447
2015
Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, Choo S, Wang N, Tesselaar K, Fang M, Bienemann K, Boztug K, Daneva A, Mechinaud F, Wiesel T, Becker C, Dückers G, Siepermann K, van Zelm MC, Rezaei N, van der Burg M, Aghamohammadi A, Seidel MG, Niehues T, Hammarström L. Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. J Allergy Clin Immunol. 2015 Apr 2. pii: S0091-6749(15)00271-7. doi: 10.1016/j.jaci.2015.02.022.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25843314
2014
Wirnsberger G, Zwolanek F, Stadlmann J, Tortola L, Liu SW, Perlot T, Järvinen P, Dürnberger G, Kozieradzki I, Sarao R, De Martino A, Boztug K, Mechtler K, Kuchler K, Klein C, Elling U, Penninger JM. Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense. Nat Genet. 2014 Sep;46(9):1028-33. doi: 10.1038/ng.3070. Epub 2014 Aug 17.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25129145
2014
Szilagyi K, Meijer AB, Neele AE, Verkuijlen P, Leitges M, Dabernat S, Förster-Waldl E, Boztug K, Belot A, Kuijpers TW, Kraal G, de Winther MP, van den Berg TK. PKCδ is dispensible for oxLDL uptake and foam cell formation by human and murine macrophages. Cardiovasc Res. 2014 Sep 24. pii: cvu213.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25253077
2014
Serwas NK, Cagdas D, Ban SA, Bienemann K, Salzer E, Tezcan I, Borkhardt A, Sanal O, Boztug K. Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia. Blood. 2014 Jul 24;124(4):655-7. doi: 10.1182/blood-2014-03-564930.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25061172
2014
Salzer E, Kansu A, Sic H, Májek P, Ikincioğullari A, Dogu FE, Prengemann NK, Santos-Valente E, Pickl WF, Bilic I, Ban SA, Kuloğlu Z, Demir AM, Ensari A, Colinge J, Rizzi M, Eibel H, Boztug K. Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. doi: 10.1016/j.jaci.2014.02.034. Epub 2014 Apr 17.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/24746753
2014
Salzer E, Kansu A, Sic H, Májek P, Ikincioğullari A, Dogu FE, Prengemann NK, Santos-Valente E, Pickl WF, Bilic I, Ban SA, Kuloğlu Z, Demir AM, Ensari A, Colinge J, Rizzi M, Eibel H, Boztug K. Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. doi: 10.1016/j.jaci.2014.02.034. Epub 2014 Apr 17.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/24746753
2014
Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchałka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff Ten Bosch J, Rezaei N, Etzioni A, Bellanné-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25129144
2014
Beşer OF, Conde CD, Kutlu T, Cokuğraş FC, Boztuğ K, Erkan T. Inflammatory Bowel Disease With Lethal Disease Course Caused By A Nonsense Mutation in BIRC4 Encoding X-linked Inhibitor of Apoptosis Protein (XIAP). J Pediatr Gastroenterol Nutr. 2014 Jul 11. [Epub ahead of print]
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25023582
2014
Ban SA, Salzer E, Eibl MM, Linder A, Geier CB, Santos-Valente E, Garncarz W, Lion T, Ott R, Seelbach C, Boztug K, Wolf HM. Combined Immunodeficiency Evolving into Predominant CD4+ Lymphopenia Caused by Somatic Chimerism in JAK3. J Clin Immunol. 2014 Sep 10. [Epub ahead of print]
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25205547
2014
Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, Modlich U, Beier R, Göhring G, Steinemann D, Fronza R, Ball CR, Haemmerle R, Naundorf S, Kühlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud MR, Al-Herz W, Kondratenko I, Maródi L, Glimm H, Schlegelberger B, Schambach A, Albert MH, Schmidt M, von Kalle C, Klein C. Gene therapy for wiskott-Aldrich syndrome--long-term efficacy and genotoxicity. Sci Transl Med. 2014 Mar 12;6(227):227ra33. doi: 10.1126/scitranslmed.3007280.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/24622513
2014
Seidel MG, Duerr C, Woutsas S, Schwerin-Nagel A, Sadeghi K, Neesen J, Uhrig S, Santos-Valente E, Pickl WF, Schwinger W, Urban C, Boztug K*, Förster-Waldl E*.A novel immunodeficiency syndrome associated with partial trisomy 19p13. J Med Genet. 2014 Apr;51(4):254-63. doi: 10.1136/jmedgenet-2013-102122. Epub 2014 Jan 15. (*equal contributing authors)
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/24431329
2013
Salzer E*, Santos-Valente E*, Klaver S, Ban SA, Emminger W, Prengemann NK, Garncarz W, Müllauer L, Kain R, Boztug H, Heitger A, Arbeiter K, Eitelberger F, Seidel MG, Holter W, Pollak A, Pickl WF, Förster-Waldl E, Boztug K. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C _. Blood. 2013 April 18; 121(16). (*equal contributing authors)
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/23319571
2013
Hennig C, Ilginus C, Boztug K, Skokowa J, Marodi L, Szaflarska A, Sass M, Pignata C, Kilic SS, Caragol I, Baumann U, Klein C, Welte K, Hansen G. High-content cytometry and transcriptomic biomarker profiling of human B-cell activation. J Allergy Clin Immunol. 2013 Sep 5.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/24012209
2013
Boztug K, Klein C. Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase. Hematol Oncol Clin North Am. 2013 Feb; 27(1):43-60, vii.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/23351987
2012
Santos-Valente E, Reisli I, Artaç H, Ott R, Sanal O, Boztug K. A Novel Mutation in the Complement Component 3 Gene in a Patient with Selective IgA Deficiency. J Clin Immunol. 2013 Jan;33(1):127-33. doi: 10.1007/s10875-012-9775-z. Epub 2012 Sep 21.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/22996269#
2012
Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Foerster-Waldl E, Borkhardt A, Boztug K*, Bienemann K*, Seidel MG*. Combined immunodeficiency with life-threatening EBV-associatedlymphoproliferative disorder in patients lacking functional CD27. Haematologica. 2013 Mar;98(3):473-8. doi: 10.3324/haematol.2012.068791. Epub 2012 Jul 16. (*equal contributing authors)
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/22801960
2012
Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, Pfeifer D, Kreipe H, Pfister ED, Baumann U, Puchalka J, Bohne J, Egritas O, Dalgic B, Kolho KL, Sauerbrey A, Buderus S, Güngör T, Enninger A, Koda YK, Guariso G, Weiss B, Corbacioglu S, Socha P, Uslu N, Metin A, Wahbeh GT, Husain K, Ramadan D, Al-Herz W, Grimbacher B, Sauer M, Sykora KW, Koletzko S, Klein C. Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology. 2012 Aug;143(2):347-55.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/22549091
2011
Hayee B, Antonopoulos A, Murphy EJ, Rahman FZ, Sewell G, Smith BN, McCartney S, Furman M, Hall G, Bloom SL, Haslam SM, Morris HR, Boztug K, Klein C, Winchester B, Pick E, Linch DC, Gale RE, Smith AM, Dell A, Segal AW. G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. Glycobiology. 2011 Jul;21(7):914-24.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/21385794
2011
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C. Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia. J Pediatr. 2011 Nov 1.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/22050868