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- B1b315c5a70afd512f083a1ed94158bdc hasDbXref "Orphanet:357237" @default.
- B1b315c5a70afd512f083a1ed94158bdc type Axiom @default.
- B1b315c5a70afd512f083a1ed94158bdc annotatedProperty IAO_0000115 @default.
- B1b315c5a70afd512f083a1ed94158bdc annotatedSource MONDO_0014081 @default.
- B1b315c5a70afd512f083a1ed94158bdc annotatedTarget "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." @default.