Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 58
DOID:0111984
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 58

Definition
A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1.
Synonyms
  • IMD58
  • severe combined immunodeficiency due to CARMIL2 deficiency
Cross References
Parent Terms
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