immunodeficiency 37

Term ID

DOID:0111939

Synonyms

• IMD37

Definition

A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. https://pubmed.ncbi.nlm.nih.gov/25365219/

References

• MIM:616098
• UMLS_CUI:C4015195

Ontology

Human Disease   ( DOID:0111939 )