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Page 1
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S. Kreins AY, et al. Among authors: kotlarz d. J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24. J Exp Med. 2015. PMID: 26304966 Free PMC article.
IL-10 and IL-10 receptor defects in humans.
Glocker EO, Kotlarz D, Klein C, Shah N, Grimbacher B. Glocker EO, et al. Among authors: kotlarz d. Ann N Y Acad Sci. 2011 Dec;1246:102-7. doi: 10.1111/j.1749-6632.2011.06339.x. Ann N Y Acad Sci. 2011. PMID: 22236434 Review.
The phenotype of human STK4 deficiency.
Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C. Abdollahpour H, et al. Among authors: kotlarz d. Blood. 2012 Apr 12;119(15):3450-7. doi: 10.1182/blood-2011-09-378158. Epub 2012 Jan 31. Blood. 2012. PMID: 22294732 Free PMC article.
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Kotlarz D, Ziętara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchałka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C. Kotlarz D, et al. J Exp Med. 2013 Mar 11;210(3):433-43. doi: 10.1084/jem.20111229. Epub 2013 Feb 25. J Exp Med. 2013. PMID: 23440042 Free PMC article.
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.
Neven B, Mamessier E, Bruneau J, Kaltenbach S, Kotlarz D, Suarez F, Masliah-Planchon J, Billot K, Canioni D, Frange P, Radford-Weiss I, Asnafi V, Murugan D, Bole C, Nitschke P, Goulet O, Casanova JL, Blanche S, Picard C, Hermine O, Rieux-Laucat F, Brousse N, Davi F, Baud V, Klein C, Nadel B, Ruemmele F, Fischer A. Neven B, et al. Among authors: kotlarz d. Blood. 2013 Nov 28;122(23):3713-22. doi: 10.1182/blood-2013-06-508267. Epub 2013 Oct 2. Blood. 2013. PMID: 24089328 Free article.
Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
Nekooie-Marnany N, Deswarte C, Ostadi V, Bagherpour B, Taleby E, Ganjalikhani-Hakemi M, Le Voyer T, Rahimi H, Rosain J, Pourmoghadas Z, Sheikhbahaei S, Khoshnevisan R, Petersheim D, Kotlarz D, Klein C, Boisson-Dupuis S, Casanova JL, Bustamante J, Sherkat R. Nekooie-Marnany N, et al. Among authors: kotlarz d. J Clin Immunol. 2018 Oct;38(7):787-793. doi: 10.1007/s10875-018-0548-1. Epub 2018 Sep 25. J Clin Immunol. 2018. PMID: 30255293 Free PMC article.
IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease.
Khoshnevisan R, Nekooei-Marnany N, Klein C, Kotlarz D, Behnam M, Ostadi V, Yaran M, Rezaei A, Sherkat R. Khoshnevisan R, et al. Among authors: kotlarz d. J Clin Tuberc Other Mycobact Dis. 2019 Sep 20;17:100123. doi: 10.1016/j.jctube.2019.100123. eCollection 2019 Dec. J Clin Tuberc Other Mycobact Dis. 2019. PMID: 31788565 Free PMC article.
Dysregulation of Cell Death in Human Chronic Inflammation.
Li Y, Klein C, Kotlarz D. Li Y, et al. Among authors: kotlarz d. Cold Spring Harb Perspect Biol. 2020 Jul 1;12(7):a037036. doi: 10.1101/cshperspect.a037036. Cold Spring Harb Perspect Biol. 2020. PMID: 31843991 Free PMC article. Review.
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.
Ghasempour S, Warner N, Guan R, Rodari MM, Ivanochko D, Whittaker Hawkins R, Marwaha A, Nowak JK, Liang Y, Mulder DJ, Stallard L, Li M, Yu DD, Pluthero FG, Batura V, Zhao M, Siddiqui I, Upton JEM, Hulst JM, Kahr WHA, Mendoza-Londono R, Charbit-Henrion F, Hoefsloot LH, Khiat A, Moreira D, Trindade E, Espinheira MDC, Pinto Pais I, Weerts MJA, Douben H, Kotlarz D, Snapper SB, Klein C, Dowling JJ, Julien JP, Joosten M, Cerf-Bensussan N, Freeman SA, Parlato M, van Ham TJ, Muise AM. Ghasempour S, et al. Among authors: kotlarz d. J Exp Med. 2024 Dec 2;221(12):e20240546. doi: 10.1084/jem.20240546. Epub 2024 Nov 11. J Exp Med. 2024. PMID: 39526957 Free PMC article.
85 results