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

• MIM:618495
• UMLS_CUI:C5193126

Ontology

Human Disease   ( DOID:0111997 )