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Page 1
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.
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. Kotlarz D, et al. Among authors: boztug k. Gastroenterology. 2012 Aug;143(2):347-55. doi: 10.1053/j.gastro.2012.04.045. Epub 2012 Apr 28. Gastroenterology. 2012. PMID: 22549091
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
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
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. Boztug K, et al. Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17. Nat Genet. 2014. PMID: 25129144 Free PMC article.
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.
Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.
Serwas NK, Kansu A, Santos-Valente E, Kuloğlu Z, Demir A, Yaman A, Gamez Diaz LY, Artan R, Sayar E, Ensari A, Grimbacher B, Boztug K. Serwas NK, et al. Among authors: boztug k. Inflamm Bowel Dis. 2015 Jan;21(1):40-7. doi: 10.1097/MIB.0000000000000266. Inflamm Bowel Dis. 2015. PMID: 25479458
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.
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. Seidel MG, et al. Among authors: boztug k. J Allergy Clin Immunol. 2015 May;135(5):1384-90.e1-8. doi: 10.1016/j.jaci.2014.10.048. Epub 2014 Dec 22. J Allergy Clin Immunol. 2015. PMID: 25539626 Free PMC article. No abstract available.
183 results