Term Name:	immunodeficiency 87
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.
Ontology:	Human Disease [DOID:0061057]   ( DOID:0061057 )