PedAM
Pediatric Disease Annotations & Medicines
| Disease | severe combined immunodeficiency |
| Phenotype | C0025958|microcephaly |
| Sentences | 2 |
| PubMedID- 22373003 | After excluding mutations in the nbn gene, confirmation of hypersensitivity to ir using csa or rds assays strongly suggests evaluation for another dna repair disease, such as ligase iv deficiency (lig4 syndrome), severe combined immunodeficiency with microcephaly (nhej1 syndrome), nbs-like disease (nbsld), or ataxia telangiectasia like disease (atld) [138]. |
| PubMedID- 23207905 | Its deficiency in humans causes radiosensitive severe combined immune deficiency (scid) with microcephaly, characterized in part by a profound lymphopenia. |
Page: 1