immunodeficiency 25

Term ID

DOID:0111942

Synonyms

• IMD25
• immunodeficiency due to defect in CD3-zeta

Definition

A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. https://pubmed.ncbi.nlm.nih.gov/16672702/

References

• MESH:C565712
• OMIM:610163
• UMLS_CUI:C1857798

Ontology

Human Disease   ( DOID:0111942 )