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Human Disease

immunodeficiency 63

Term ID
DOID:0111997
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. (2)
References
Ontology
Human Disease   ( DOID:0111997 )
Relationships
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Genes Involved
Zebrafish Models