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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: AlKhater, Suzan A., Deswarte, Caroline, Casanova, Jean‐Laurent, Bustamante, Jacinta
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2020
Konular:
Clinical Reports
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7284029/
https://ncbi.nlm.nih.gov/pubmed/32281309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1237
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