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.”
The disease is characterized by variable combination of
enteropathy,
hypogammaglobulinemia, recurrent
respiratory infections,
granulomatous lymphocytic interstitial lung disease
A granuloma is an aggregation of macrophages that forms in response to chronic inflammation. This occurs when the immune system attempts to isolate foreign substances that it is otherwise unable to eliminate. Such substances include infectious ...
, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune
thrombocytopenia or
neutropenia
Neutropenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the blood. Neutrophils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria ...
, autoimmune
hemolytic anemia and
lymphadenopathy
Lymphadenopathy or adenopathy is a disease of the lymph nodes, in which they are abnormal in size or consistency. Lymphadenopathy of an inflammatory type (the most common type) is lymphadenitis, producing swollen or enlarged lymph nodes. In cli ...
.
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.
References
External links
www.orpha.net
Genetic diseases and disorders
Autoimmune diseases
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