IL10RA
MIM.146933
Pathology
germline mutations of IL10RA in IL10RA-associated immunodeficiency
- IL10RA-associated enterocolitis
- early-onset severe enterocolitis (IBD28; MIM.613148)
- early-onset severe pancolitis
References
Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease. Begue B, Verdier J, Rieux-Laucat F, Goulet O, Morali A, Canioni D, Hugot JP, Daussy C, Verkarre V, Pigneur B, Fischer A, Klein C, Cerf-Bensussan N, Ruemmele FM. Am J Gastroenterol. 2011 Apr 26. PMID: #21519361#
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. N Engl J Med. 2009 Nov 19;361(21):2033-45. PMID: #19890111#
Glocker, E.-O., Kotlarz, D., Boztug, K., Gertz, E. M., Schaffer, A. A., Noyan, F., Perro, M., Diestelhorst, J., Allroth, A., Murugan, D., Hatscher, N., Pfeifer, D., and 16 others Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. New Eng. J. Med. 361: 2033-2045, 2009. [PubMed: #19890111#]