Immunodeficiency 91 and hyperinflammation

Definition

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.

Also known as IMD91, immunodeficiency, autosomal recessive, due to ZNFX1 deficiency: — per MONDO

Also identified as

• DOID 0061061 per MONDO
• OMIM 619644 per MONDO
• UMLS C5562073 per MONDO