Immune dysregulation, autoimmunity, and autoinflammation

Synonyms: ACTIVATING PLCG1 VARIANT-ASSOCIATED SYNDROME

Summary

Immune dysregulation, autoimmunity, and autoinflammation (IDAA) is an immunologic disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, and increased levels of proinflammatory cytokines due to constitutive activation of immune-related signaling pathways (Tao et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

PLCG1
8 tests
Also known as: IDAA, NCKAP3, PLC-II, PLC1, PLC148, PLCgamma1, PLCG1
Summary: phospholipase C gamma 1

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MedlinePlus

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