Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 37
DOID:0111939
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 37

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.
Synonyms
  • IMD37
Cross References
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