| 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 the IL2RB gene on chromosome 22q12.3. https://pubmed.ncbi.nlm.nih.gov/31040184/, https://pubmed.ncbi.nlm.nih.gov/31040185/ |
| Xrefs | |
| Synonyms |
IL2RB deficiency [EXACT] IMD63 [EXACT] immunodeficiency 63 with lymphoproliferation and autoimmunity [EXACT] |
| Parent Relationships |