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Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C. Kotlarz D, et al. Among authors: conca r. Nat Genet. 2018 Mar;50(3):344-348. doi: 10.1038/s41588-018-0063-6. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483653 Free PMC article.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D. Li Y, et al. Among authors: conca r. Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116. Epub 2018 Dec 27. Proc Natl Acad Sci U S A. 2019. PMID: 30591564 Free PMC article.
Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.
Lehle AS, Farin HF, Marquardt B, Michels BE, Magg T, Li Y, Liu Y, Ghalandary M, Lammens K, Hollizeck S, Rohlfs M, Hauck F, Conca R, Walz C, Weiss B, Lev A, Simon AJ, Groß O, Gaidt MM, Hornung V, Clevers H, Yazbeck N, Hanna-Wakim R, Shouval DS, Warner N, Somech R, Muise AM, Snapper SB, Bufler P, Koletzko S, Klein C, Kotlarz D. Lehle AS, et al. Among authors: conca r. Gastroenterology. 2019 Jan;156(1):275-278. doi: 10.1053/j.gastro.2018.09.041. Epub 2018 Sep 26. Gastroenterology. 2019. PMID: 30267714 No abstract available.
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
Magg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V, Conca R, Unal E, Karacabey N, Mukhina A, Rodina Y, Taur PD, Illig D, Marquardt B, Hollizeck S, Jeske T, Gothe F, Schober T, Rohlfs M, Koletzko S, Lurz E, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D. Magg T, et al. Among authors: conca r. Inflamm Bowel Dis. 2019 Oct 18;25(11):1788-1795. doi: 10.1093/ibd/izz103. Inflamm Bowel Dis. 2019. PMID: 31115454 Free PMC article.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K. Somekh I, et al. Among authors: conca r. Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644. Blood. 2019. PMID: 31501153 Free PMC article.
70 results