OBO ID: DOID:0111957
Term Name: immunodeficiency 11A Search Ontology:
Synonyms:
  • CARD11 deficiency
  • IMD11A
  • SCID due to CARD11 deficiency
  • severe combined immunodeficiency due to CARD11 deficiency
Definition: A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (2)
References:
Ontology: Human Disease   ( DOID:0111957 )
Relationships
is a type of:
OTHER immunodeficiency 11A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CARD11 Immunodeficiency 11A 615206
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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