PedAM
Pediatric Disease Annotations & Medicines
| Disease | severe combined immunodeficiency |
| Phenotype | C0268124|adenosine deaminase deficiency |
| Sentences | 5 |
| PubMedID- 22350222 | adenosine deaminase deficiency is a disorder of purine metabolism manifesting severe combined immunodeficiency (ada-scid) and systemic abnormalities. |
| PubMedID- 21057082 | The different extent of b and t cell immune reconstitution after hematopoietic stem cell transplantation and enzyme replacement therapies in scid patients with adenosine deaminase deficiency. |
| PubMedID- 20460637 | We compared engraftment, metabolic, and t-cell and b-cell immune reconstitution of hla-identical sibling bone marrow transplantation performed in 2 severe combined immunodeficiency infants with adenosine deaminase deficiency from the same family treated with or without a reduced intensity conditioning regimen (busulfan/fludarabine). |
| PubMedID- 24431031 | Increased adenosine concentration is partially responsible for severe combined immunodeficiency syndrome observed in patients with inherited adenosine deaminase deficiency. |
| PubMedID- 23897312 | Eventually a diagnosis of scid in association with adenosine deaminase deficiency was made. |
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