immunodeficiency 17

Term ID

DOID:0111973

Synonyms

• CD3-gamma deficiency
• IMD17
• immunodeficiency 17, CD3 gamma deficient
• SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive

Definition

A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. (3)

References

• OMIM:615607
• UMLS_CUI:C3810107

Ontology

Human Disease   ( DOID:0111973 )