Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation

Reticular dysgenesis is an autosomal recessive form of severe combined immunodeficiency (SCID) that usually manifests in newborns. It is a unique example of an immune deficiency that is linked to dysfunctional mitochondrial energy metabolism and caused by adenylate kinase 2 (AK2) deficiency. It is c...

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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Ghaloul-Gonzalez, Lina, Mohsen, Al-Walid, Karunanidhi, Anuradha, Seminotti, Bianca, Chong, Hey, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vockley, Catherine Walsh, Reyes-Múgica, Miguel, Vander Lugt, Mark T., Vockley, Jerry
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2019
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6823482/
https://ncbi.nlm.nih.gov/pubmed/31673062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-51922-2
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