CHAI disease explained

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.^[3] It is closely linked to LATIAE disease. 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]}

External links

• www.orpha.net

Notes and References

1. 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. 10.1182/blood-2016-04-712612. 0006-4971. 5000841. 27418640.
2. Web site: Orphanet: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency. 2021-03-01. www.orpha.net.
3. Lo. Bernice. Abdel-Motal. Ussama M. 2017-12-01. Lessons from CTLA-4 deficiency and checkpoint inhibition. Current Opinion in Immunology. Autoimmunity. en. 49. 14–19. 10.1016/j.coi.2017.07.014. 28806575. 0952-7915.
4. Kuehn. Hye Sun. Ouyang. Weiming. Lo. Bernice. Deenick. Elissa K.. Niemela. Julie E.. Avery. Danielle T.. Schickel. Jean-Nicolas. Tran. Dat Q.. Stoddard. Jennifer. Zhang. Yu. Frucht. David M.. 2014-09-26. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. en. 345. 6204. 1623–1627. 10.1126/science.1255904. 0036-8075. 25213377. 4371526. 2014Sci...345.1623K.