immunodeficiency 91

Term ID

DOID:0061061

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. https://pubmed.ncbi.nlm.nih.gov/33876776/

References

MIM:619644

Ontology

Human Disease ( DOID:0061061 )

Relationships

is a type of: autosomal recessive disease primary immunodeficiency disease

autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models