Severe combined immunodeficiency due to CARD11 deficiency

Orpha code: 357237OMIM code: 615206

Definition

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.

Disease data
Classification

Disease

Synonyms
SCID due to CARD11 deficiency
SCID z powodu niedoboru CARD11
ORPHA code
357237
OMIM code
615206
ICD10 code
D81.2
ICD11 code
-

No additional description.

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