Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 46
DOID:0111948
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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 the TFRC gene on chromosome 3q29.
Synonyms
  • CID due to TFRC deficiency
  • combined immunodeficiency due to TFRC deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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