Severe combined immunodeficiency due to CARD11 deficiency

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Name:
Severe combined immunodeficiency due to CARD11 deficiency
Description:
Severe combined immunodeficiency due to CARD11 deficiency is 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.
ORPHAcode:
357237
Synonyms:
SCID due to CARD11 deficiency
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14