OBO ID: DOID:0111997
Term Name: immunodeficiency 63 Search Ontology:
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 IL2RB on chromosome 22q12.3. (2)
References:
Ontology: Human Disease   (DOID:0111997)
OTHER immunodeficiency 63 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IL2RB Immunodeficiency 63 with lymphoproliferation and autoimmunity 618495
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None