immunodeficiency 48

Term ID

DOID:0111943

Synonyms

• combined immunodeficiency due to ZAP70 deficiency
• IMD48
• zeta-associated-protein 70 deficiency

Definition

A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. https://pubmed.ncbi.nlm.nih.gov/2511270/

References

• GARD:387
• MESH:C537590
• OMIM:269840
• ORDO:911
• UMLS_CUI:C1849236

Ontology

Human Disease   ( DOID:0111943 )