OBO ID: DOID:0111984
Term Name: immunodeficiency 58 Search Ontology:
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 CARMIL2 on chromosome 16q22.1. (2)
References:
Ontology: Human Disease   (DOID:0111984)
OTHER immunodeficiency 58 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CARMIL2 Immunodeficiency 58 618131
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None