eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | adenosine deaminase deficiency |
| Symptom | C0021051|immunodeficiency |
| Sentences | 7 |
| PubMedID- 22348551 | Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency. |
| PubMedID- 21671975 | We report a child with severe combined immunodeficiency (t-b- scid) due to ada deficiency diagnosed at the age of 1 month, whose lymphocyte counts including cd4+ and cd8+ t and nk cells began to improve after several months with normalization of ada activity in peripheral blood lymphocytes (pbl), as a result of somatic mosaicism caused by monoallelic reversion of the causative mutation in the ada gene. |
| PubMedID- 22371846 | Transplantation of autologous hematopoietic stem cells (hsc) genetically modified ex vivo using viral vectors represents a potentially curative treatment for inherited disorders of the hematopoietic system, including primary immunodeficiencies.1,2 clinical trials for severe combined immunodeficiency (scid) due to adenosine deaminase deficiency3 or il2rg-deficiency (x-linked severe combined immunodeficiency (scid-x1))4,5 have shown that gene therapy with retrovirally transduced hsc results in long-term clinical efficacy. |
| PubMedID- 22764473 | Severe combined immunodeficiency due to 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- 20534204 | New results with gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency are promising. |
| PubMedID- 24834279 | Ada (adenosine deaminase) is down-regulated in gca response to reactive oxygen species and response to hypoxia cause adenosine deaminase deficiency, partial, severe combined immunodeficiency due to ada deficiency (45). |
Page: 1