immunodeficiency 53

Term ID

DOID:0111992

Synonyms

• IMD53

Definition

A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. https://pubmed.ncbi.nlm.nih.gov/26385063/

References

• OMIM:617585
• UMLS_CUI:C4539811

Ontology

Human Disease   ( DOID:0111992 )