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severe combined immunodeficiency due to CARD11 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo 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.
Uniprot Description An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function.
Mondo Term and Equivalent IDs
MONDO:0014081:  severe combined immunodeficiency due to CARD11 deficiency
Orphanet:357237: 
UMLS:C3554686: