immunodeficiency 13

Term ID

DOID:0111987

Synonyms

• ICL
• idiopathic CD4 lymphopenia
• IMD13

Definition

A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. https://pubmed.ncbi.nlm.nih.gov/22184408/

References

• GARD:12375
• OMIM:615518
• ORDO:228000
• UMLS_CUI:C3809768

Ontology

Human Disease   ( DOID:0111987 )