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- Be488512306ddc21b7a8368706217ed33 hasDbXref "Orphanet:357237" @default.
- Be488512306ddc21b7a8368706217ed33 type Axiom @default.
- Be488512306ddc21b7a8368706217ed33 annotatedProperty IAO_0000115 @default.
- Be488512306ddc21b7a8368706217ed33 annotatedSource MONDO_0014081 @default.
- Be488512306ddc21b7a8368706217ed33 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.