A novel mutation in NCF2 resulting in very-early-onset colitis and juvenile idiopathic arthritis in a patient with chronic granulomatous disease

BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. The disease primarily presents with recurrent infections, and patients may also present with inflammatory conditi...

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Detalles Bibliográficos
Autor principal: AlKhater, Suzan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873422/
https://www.ncbi.nlm.nih.gov/pubmed/31832070
http://dx.doi.org/10.1186/s13223-019-0386-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873422/
https://www.ncbi.nlm.nih.gov/pubmed/31832070
http://dx.doi.org/10.1186/s13223-019-0386-6

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