DISEASE: Immune dysregulation, autoimmunity, and autoinflammation
Entry
H02792 Disease
Name
Immune dysregulation, autoimmunity, and autoinflammation
Description
Immune dysregulation, autoimmunity, and autoinflammation (IDAA) is a new immune dysregulation disease. It has been reported that a gain-of-function mutation in PLCG1 causes this disease. PLCG1 encodes phospholipase C gamma 1, an enzyme activated by receptor and non-receptor tyrosine kinases and hydrolyzes phosphatidylinositol 4,5-bisphosphate to produce critical second messengers, including diacylglycerol (DAG) and inositol-1,4,5-trisphosphate (IP3).
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A01 Primary immunodeficiencies due to disorders of adaptive immunity
H02792 Immune dysregulation, autoimmunity, and autoinflammation
