eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | adenosine deaminase deficiency |
| Symptom | C0494261|combined immunodeficiency |
| Sentences | 2 |
| 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- 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). |
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