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Metadata
ID	DOID:0061057
Name	immunodeficiency 87
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/
Xrefs	MIM:619573
Synonyms	immunodeficiency 87 and autoimmunity [EXACT]
Parent Relationships	is_a T cell deficiency is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance