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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.
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. Göschl L, et al. Among authors: boztug k. J Clin Immunol. 2020 Jan;40(1):223-226. doi: 10.1007/s10875-019-00700-w. Epub 2019 Nov 4. J Clin Immunol. 2020. PMID: 31686313 No abstract available.
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Förster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG. Salzer E, et al. Among authors: boztug k. Haematologica. 2013 Mar;98(3):473-8. doi: 10.3324/haematol.2012.068791. Epub 2012 Jul 16. Haematologica. 2013. PMID: 22801960 Free PMC article.
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.
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. Salzer E, et al. Among authors: boztug k, boztug h. Blood. 2013 Apr 18;121(16):3112-6. doi: 10.1182/blood-2012-10-460741. Epub 2013 Jan 14. Blood. 2013. PMID: 23319571 Free PMC article.
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
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. Seidel MG, et al. Among authors: boztug k. J Med Genet. 2014 Apr;51(4):254-63. doi: 10.1136/jmedgenet-2013-102122. Epub 2014 Jan 15. J Med Genet. 2014. PMID: 24431329 Free PMC article.
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
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. Salzer E, et al. Among authors: boztug k. J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. doi: 10.1016/j.jaci.2014.02.034. Epub 2014 Apr 17. J Allergy Clin Immunol. 2014. PMID: 24746753
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.
Willmann KL, Klaver S, Doğu F, Santos-Valente E, Garncarz W, Bilic I, Mace E, Salzer E, Conde CD, Sic H, Májek P, Banerjee PP, Vladimer GI, Haskoloğlu S, Bolkent MG, Küpesiz A, Condino-Neto A, Colinge J, Superti-Furga G, Pickl WF, van Zelm MC, Eibel H, Orange JS, Ikincioğulları A, Boztuğ K. Willmann KL, et al. Among authors: boztug k. Nat Commun. 2014 Nov 19;5:5360. doi: 10.1038/ncomms6360. Nat Commun. 2014. PMID: 25406581 Free PMC article.
180 results