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Metadata
ID DOID:0111997
Name immunodeficiency 63
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 IL2RB on chromosome 22q12.3.
https://pubmed.ncbi.nlm.nih.gov/31040184/, https://pubmed.ncbi.nlm.nih.gov/31040185/
Xrefs

OMIM:618495

UMLS_CUI:C5193126

Synonyms

IL2RB deficiency [EXACT]

IMD63 [EXACT]

immunodeficiency 63 with lymphoproliferation and autoimmunity [EXACT]

Parent Relationships

is_a T cell and NK cell immunodeficiency

is_a autosomal recessive disease

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