Term Name: | immunodeficiency 91 |
---|---|
Synonyms: | immunodeficiency 91 and hyperinflammation |
Definition: | A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. |
Ontology: | Human Disease [DOID:0061061] ( DOID:0061061 ) |