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Metadata
ID DOID:0111939
Name 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 BCL10 on chromosome 1p22.3.
https://pubmed.ncbi.nlm.nih.gov/25365219/
Xrefs

OMIM:616098

UMLS_CUI:C4015195

Synonyms

IMD37 [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a autosomal recessive disease

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