Severe Combined Immunodeficiency with De Novo Duchenne Muscular Dystrophy Mutation

Both severe combined immunodeficiency (SCID) syndrome and Duchenne muscular dystrophy (DMD) are rare conditions. Patients with X-linked SCID have pathogenic variants of the IL2RG gene, resulting in defective cellular and humoral immunity. DMD is also an X-linked condition caused by a dystrophin gene...

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Detalles Bibliográficos
Autores principales: Shah, Kevin P., Ramachandran, Vignesh, Nicholas, Sarah K., Hanson, Imelda C., Lotze, Timothy E., Martinez, Caridad A., Fishman, Douglas S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158261/
https://www.ncbi.nlm.nih.gov/pubmed/37168752
http://dx.doi.org/10.1097/PG9.0000000000000135

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