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 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease