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Disease Ontology Browser
immunodeficiency 133 (DOID:0061096)
Alliance: disease page
Synonyms: immunodeficiency 133 with autoimmunity and autoinflammation
Alt IDs: OMIM:620565
Definition: A primary immunodeficiency disease that is characterized recurrent infections and features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages.

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