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Kaan Boztug

Kaan Boztug

Genombasierte Präzisionsmedizin für kindliche Immun- und Bluterkrankungen

Publications

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.
2021

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.

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.
Allergo J Int. 2021;30(5):155-168. doi: 10.1007/s40629-021-00178-2. Epub 2021 Jun 18.
2021

A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.

Shafeghat M, Esmaeilzadeh H, Sadeghalvad M, Rayzan E, Zoghi S, Shahkarami S, Heredia Jimenez R, Krolo A, Boztug K, Rezaei N.
Allergol Immunopathol (Madr). 2021 Jul 1;49(4):91-97. doi: 10.15586/aei.v49i4.194. eCollection 2021.
2021

Impaired respiratory burst contributes to infections in PKCδ-deficient patients.

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.
J Exp Med. 2021 Sep 6;218(9):e20210501. doi: 10.1084/jem.20210501. Epub 2021 Jul 15.
2021

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.

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.
Sci Immunol. 2021 Nov 26;6(65):eabe3981. doi: 10.1126/sciimmunol.abe3981. Epub 2021 Nov 26.
2021

Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes.

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.
J Clin Immunol. 2021 Oct;41(7):1563-1573. doi: 10.1007/s10875-021-01062-y. Epub 2021 Jun 10.
2021

Actin Dynamics at the T Cell Synapse as Revealed by Immune-Related Actinopathies.

Dupré L, Boztug K, Pfajfer L.
Front Cell Dev Biol. 2021 Jun 24;9:665519. doi: 10.3389/fcell.2021.665519. eCollection 2021.
2021

Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the Literature.

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.
J Allergy Clin Immunol Pract. 2021 Oct;9(10):3752-3766.e4. doi: 10.1016/j.jaip.2021.05.032. Epub 2021 Jun 17.
2021

Thrombomodulin in patients with mild to moderate bleeding tendency.

Mehic D, Tolios A, Hofer S, Ay C, Haslacher H, Downes K, Haimel M, Pabinger I, Gebhart J.
Haemophilia. 2021 Nov;27(6):1028-1036. doi: 10.1111/hae.14433. Epub 2021 Oct 10.
2021

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.

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.
Sci Immunol. 2021 Nov 26;6(65):eabe3981. doi: 10.1126/sciimmunol.abe3981. Epub 2021 Nov 26.