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Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature

Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder marked by abnormal phagocytic function. CGD affects primarily neutrophils and manifests as an early predisposition to severe life-threatening infections. Additionally, patients with CGD are predisposed to unique autoimmune ma...

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Detalles Bibliográficos
Autores principales: Gavrilova, Tatyana, Zelig, Ari, Lee, Diana H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026706/
https://www.ncbi.nlm.nih.gov/pubmed/32089701
http://dx.doi.org/10.1155/2020/2546190