OBO ID: DOID:0060018
Term Name: CD3gamma deficiency Search Ontology:
Synonyms:
Definition: A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. https://www.ncbi.nlm.nih.gov/pubmed/16264327
References:
Ontology: Human Disease   (DOID:0060018)
OTHER CD3gamma deficiency PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None