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Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
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. Wang L, et al. Among authors: boztug k. Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29. Nat Genet. 2021. PMID: 33782605 Free PMC article.
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K. Klein C, et al. Among authors: boztug k. Nat Genet. 2007 Jan;39(1):86-92. doi: 10.1038/ng1940. Epub 2006 Dec 24. Nat Genet. 2007. PMID: 17187068
Congenital neutropenia syndromes.
Boztug K, Welte K, Zeidler C, Klein C. Boztug K, et al. Immunol Allergy Clin North Am. 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007. Immunol Allergy Clin North Am. 2008. PMID: 18424332 Review.
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C. Glocker EO, et al. Among authors: boztug k. N Engl J Med. 2009 Nov 19;361(21):2033-45. doi: 10.1056/NEJMoa0907206. Epub 2009 Nov 4. N Engl J Med. 2009. PMID: 19890111 Free PMC article.
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
182 results