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Human Disease

immunodeficiency 58

Term ID
DOID:0111984
Synonyms
  • IMD58
  • severe combined immunodeficiency due to CARMIL2 deficiency
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. (2)
References
Ontology
Human Disease   ( DOID:0111984 )
Relationships
is a type of
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Genes Involved
Zebrafish Models