Английская Википедия:CHAI disease

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Шаблон:Short description 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]

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Шаблон:Genetic-disorder-stub