FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term immunodeficiency 63 ID (Ontology) DOID:0111997 (Human Disease)
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.
Also Known As "IL2RB deficiency" ; "IMD63" ; "immunodeficiency 63 with lymphoproliferation and autoimmunity"
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autosomal genetic disease
 |__autosomal recessive disease__________
primary immunodeficiency disease         |
 |__T cell and NK cell immunodeficiency__|
                                         immunodeficiency 63
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Is a autosomal recessive disease
T cell and NK cell immunodeficiency
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Synonyms
  • "IL2RB deficiency" EXACT
    "IMD63" EXACT OMO:0003012
    "immunodeficiency 63 with lymphoproliferation and autoimmunity" EXACT
Secondary IDs
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MIM:618495
UMLS_CUI:C5193126