YearPaper
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
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
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
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 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#
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
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 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
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
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 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 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 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 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 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 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 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
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
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 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 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 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 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 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 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 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 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 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 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 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 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 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
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
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 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 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 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 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 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 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 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 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 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/
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
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 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 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 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 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 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 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 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 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