Medicine:CHAI disease
CHAI disease is a rare genetic disorder of the immune system that illustrates the role of CTLA-4 in cell signaling. CHAI stands for “Autoimmune lymphoproliferative syndrome due to CTLA4 haplo-insufficiency.”[1][2] The disease is characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.[1][3] It is closely linked to LATIAE disease.[1] Investigators in the laboratory of Dr. Michael Lenardo, National Institute of Allergy and Infectious Diseases at the National Institutes of Health first described this condition in 2018.[1][4]
References
- ↑ 1.0 1.1 1.2 1.3 Lo, Bernice; Fritz, Jill M.; Su, Helen C.; Uzel, Gulbu; Jordan, Michael B.; Lenardo, Michael J. (2016-08-25). "CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency". Blood 128 (8): 1037–1042. doi:10.1182/blood-2016-04-712612. ISSN 0006-4971. PMID 27418640.
- ↑ "Orphanet: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436159.
- ↑ Lo, Bernice; Abdel-Motal, Ussama M (2017-12-01). "Lessons from CTLA-4 deficiency and checkpoint inhibition" (in en). Current Opinion in Immunology. Autoimmunity 49: 14–19. doi:10.1016/j.coi.2017.07.014. ISSN 0952-7915. PMID 28806575. https://www.sciencedirect.com/science/article/pii/S0952791517300456.
- ↑ Kuehn, Hye Sun; Ouyang, Weiming; Lo, Bernice; Deenick, Elissa K.; Niemela, Julie E.; Avery, Danielle T.; Schickel, Jean-Nicolas; Tran, Dat Q. et al. (2014-09-26). "Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4" (in en). Science 345 (6204): 1623–1627. doi:10.1126/science.1255904. ISSN 0036-8075. PMID 25213377. Bibcode: 2014Sci...345.1623K.
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