immunodeficiency 91 and hyperinflammation
An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.
MONDO:0021094
immunodeficiency disease
is_a
IMD91
exact
immunodeficiency, autosomal recessive, due to ZNFX1 deficiency:
exact
SPCC1739.03