| Metadata | |
|---|---|
| ID | DOID:0111957 |
| Name | immunodeficiency 11A |
| 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. https://pubmed.ncbi.nlm.nih.gov/23374270/, https://pubmed.ncbi.nlm.nih.gov/23561803/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CARD11 deficiency [EXACT] IMD11A [EXACT] SCID due to CARD11 deficiency [EXACT] severe combined immunodeficiency due to CARD11 deficiency [EXACT] |
| Parent Relationships |