eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | neutropenia |
| Comorbidity | C0085110|severe combined immunodefic |
| Sentences | 2 |
| PubMedID- 23296427 | Here we describe the occurrence of severe combined immunodeficiency (scid) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided partial immune reconstitution. |
| PubMedID- 24333136 | We describe an unusual case of severe combined immunodeficiency (scid) with neutropenia and central nervous system (cns) manifestations in which a novel rag1 mutation was identified. |
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