| ernstige gecombineerde immunodeficiëntie door deficiëntie van 'caspase recruitment domain-containing protein 11' (aandoening) DEPRECATED |
| ernstige gecombineerde immunodeficiëntie door deficiëntie van 'caspase recruitment domain-containing protein 11' |
| 'severe combined immunodeficiency' door CARD11-deficiëntie
ernstige gecombineerde immuundeficiëntie door CARD11-deficiëntie
SCID door CARD11-deficiëntie
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| Severe combined immunodeficiency due to CARD11 deficiency |
| Severe combined immunodeficiency due to CARD11 (caspase recruitment domain family member 11) deficiency
Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency
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| A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22. |
