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- Bb30c6ce5e071ecbabafc356ff7cb4c54 hasDbXref "Orphanet:369861" @default.
- Bb30c6ce5e071ecbabafc356ff7cb4c54 type Axiom @default.
- Bb30c6ce5e071ecbabafc356ff7cb4c54 annotatedProperty IAO_0000115 @default.
- Bb30c6ce5e071ecbabafc356ff7cb4c54 annotatedSource MONDO_0014487 @default.
- Bb30c6ce5e071ecbabafc356ff7cb4c54 annotatedTarget "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." @default.