Reticular dysgenesis caused by an intronic pathogenic variant in AK2

Reticular dysgenesis is a form of severe combined immunodeficiency (SCID) caused by biallelic pathogenic variants in AK2. Here we present the case of a boy diagnosed with SCID following a positive newborn screen (NBS). Genetic testing revealed a homozygous variant: AK2 c.330 + 5G > A. In silico a...

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Detalles Bibliográficos
Autores principales: Ichikawa, Shoji, Prockop, Susan, Cunningham-Rundles, Charlotte, Sifers, Travis, Conner, Blair R., Wu, Sitao, Karam, Rachid, Walsh, Michael F., Fiala, Elise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304357/
https://www.ncbi.nlm.nih.gov/pubmed/32532877
http://dx.doi.org/10.1101/mcs.a005017

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