eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | severe combined immunodeficiency |
| Comorbidity | C0027947|neutropenia |
| Sentences | 1 |
| 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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