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Metadata
ID DOID:0111948
Name immunodeficiency 46
Definition A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in TFRC on chromosome 3q29.
https://pubmed.ncbi.nlm.nih.gov/26642240/
Xrefs

OMIM:616740

ORDO:476113

UMLS_CUI:C4225219

Synonyms

CID due to TFRC deficiency [EXACT]

combined immunodeficiency due to TFRC deficiency [EXACT]

IMD46 [EXACT]

TFRC-related combined immunodeficiency [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a autosomal recessive disease

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