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Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature
Joint Authors
Gavrilova, Tatyana
Zelig, Ari
Lee, Diana H.
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-02-06
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Gavrilova, Tatyana& Zelig, Ari& Lee, Diana H.. 2020. Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature. Case Reports in Medicine،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148407
Modern Language Association (MLA)
Gavrilova, Tatyana…[et al.]. Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature. Case Reports in Medicine No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1148407
American Medical Association (AMA)
Gavrilova, Tatyana& Zelig, Ari& Lee, Diana H.. Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature. Case Reports in Medicine. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148407
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148407