Whole‐exome sequencing of T(‐)B(+) severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants

Severe combined immunodeficiency (SCID) is fatal if not treated with immune reconstitution. In Egypt, T(‐)B(+) SCID accounts for 38·5% of SCID diagnoses. An accurate genetic diagnosis is essential for choosing appropriate treatment modalities and for offering genetic counseling to the patient’s fami...

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Detalhes bibliográficos
Publicado no:Clin Exp Immunol
Main Authors: El Hawary, R., Meshaal, S., Mauracher, A.A., Opitz, L., Abd Elaziz, D., Lotfy, S., Eldash, A., Boutros, J., Galal, N., Pachlopnik Schmid, J., Elmarsafy, A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7874839/
https://ncbi.nlm.nih.gov/pubmed/33040328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cei.13536
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