A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder (PID) affecting NADPH oxidase activity. The rarest form of the disease is considered to be caused by NCF2 gene bi‐allelic variant. Here, we report the clinical and molecular characterization of a patient pres...

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Detalles Bibliográficos
Autores principales: AlKhater, Suzan A., Deswarte, Caroline, Casanova, Jean‐Laurent, Bustamante, Jacinta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284029/
https://www.ncbi.nlm.nih.gov/pubmed/32281309
http://dx.doi.org/10.1002/mgg3.1237

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284029/
https://www.ncbi.nlm.nih.gov/pubmed/32281309
http://dx.doi.org/10.1002/mgg3.1237

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