multisystem autoimmune disease due to IKAROS gain of function
MONDO:0800138Mondo
Findings
No curated finding names multisystem autoimmune disease due to IKAROS gain of function yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.
Definition from the Mondo Disease Ontology (MONDO:0800138), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of