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Disease Ontology Browser
immunodeficiency 87 (DOID:0061057)
Alliance: disease page
Synonyms: immunodeficiency 87 and autoimmunity
Alt IDs: OMIM:619573
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory