Search Ontology:
Human Disease

immunodeficiency 11A

Term ID
DOID:0111957
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 Pages
Genes Involved
Zebrafish Models