@article{f7703e3b76cb448fa503c9c276e7f45d,
title = "Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature",
abstract = "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 manifestations. While generally spared from infectious complications, heterozygous carriers of the abnormal genes implicated in CGD pathogenesis can still present with autoimmune disorders. A mutation in the CYBB gene is the only X-linked variant of this disease. This article describes a family with the CYBB mutation, its heterogenous presentation, and reviews the literature discussing disease management.",
author = "Tatyana Gavrilova and Ari Zelig and Lee, {Diana H.}",
note = "Funding Information: This work was supported by National Institutes of Health Grant AI015614 (to C. A. D.), the Interleukin Foundation (to N. E. P.), and by DNX Biopharmaceuticals, Inc., San Diego, CA. C. K. E., III, and R. D. are shareholders in DNX Biopharmaceuticals, Inc., and A. S., M. S., and U. B. are shareholders of XL-protein GmbH. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Funding Information: Acknowledgments—We are grateful to Suzhao Li and Tania Azam for advice and technical support. We are also grateful to Klaus Wach-inger for technical assistance and Tobias Kruse for contributions at an earlier stage of this project. XL-protein GmbH was recipient of Grant EP140440 from the German Bundesministerium f{\"u}r Wirtschaft und Energie. Funding Information: This work was supported by National Institutes of Health Grant AI015614 (to C. A. D.), the Interleukin Foundation (to N. E. P.), and by DNX Biopharma-ceuticals, Inc., San Diego, CA. C. K. E., III, and R. D. are shareholders in DNX Biopharmaceuticals, Inc., and A. S., M. S., and U. B. are shareholders of XL-protein GmbH. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Publisher Copyright: {\textcopyright} 2020 Tatyana Gavrilova et al.",
year = "2020",
doi = "10.1155/2020/2546190",
language = "English (US)",
volume = "2020",
journal = "Case Reports in Medicine",
issn = "1687-9627",
publisher = "Hindawi Limited",
}