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immunodeficiency 63
Summary
- Synonym
-
- 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.
- Super Class
- T cell and NK cell immunodeficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111997
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P14784 | Interleukin-2 receptor subunit beta |
