Term Name: | immunodeficiency 63 |
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Synonyms: | IL2RB deficiency, IMD63, immunodeficiency 63 with lymphoproliferation and autoimmunity |
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. |
Ontology: | Human Disease [DOID:0111997] ( DOID:0111997 ) |