Term Name: immunodeficiency 63
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.
Ontology: Human Disease [DOID:0111997]   ( DOID:0111997 )

Relationships
is a type of: autosomal recessive disease T cell and NK cell immunodeficiency