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immunodeficiency 63 (DOID:0111997)
Alliance: disease page
Synonyms: IL2RB deficiency; IMD63; immunodeficiency 63 with lymphoproliferation and autoimmunity
Alt IDs: OMIM:618495, UMLS_CUI:C5193126
Definition: A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3.

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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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11/12/2024
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