immunodeficiency 87

Term ID

DOID:0061057

Synonyms

• immunodeficiency 87 and autoimmunity

Definition

A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. https://pubmed.ncbi.nlm.nih.gov/32562707/

References

• MIM:619573

Ontology

Human Disease   ( DOID:0061057 )