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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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2020/2546190 |
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| _version_ | 1832568066897084416 |
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| author | Tatyana Gavrilova Ari Zelig Diana H. Lee |
| author_facet | Tatyana Gavrilova Ari Zelig Diana H. Lee |
| author_sort | Tatyana Gavrilova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-444d098bf4254a43abcea0f12e797e3f |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-444d098bf4254a43abcea0f12e797e3f2025-02-03T00:59:44ZengWileyCase Reports in Medicine1687-96271687-96352020-01-01202010.1155/2020/25461902546190Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the LiteratureTatyana Gavrilova0Ari Zelig1Diana H. Lee2Division of Allergy and Immunology, Montefiore Medical Center, Albert Einstein College of Medicine, 1525 Blondell Avenue, Bronx, NY 10461, USADivision of Allergy and Immunology, Montefiore Medical Center, Albert Einstein College of Medicine, 1525 Blondell Avenue, Bronx, NY 10461, USADepartment of Dermatology, Montefiore Medical Center, Albert Einstein College of Medicine, 3415 Bainbridge Avenue, Bronx, NY 10467, USAChronic 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.http://dx.doi.org/10.1155/2020/2546190 |
| spellingShingle | Tatyana Gavrilova Ari Zelig Diana H. Lee Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature Case Reports in Medicine |
| title | Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature |
| title_full | Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature |
| title_fullStr | Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature |
| title_full_unstemmed | Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature |
| title_short | Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature |
| title_sort | variable presentation of the cybb mutation in one family approach to management and a review of the literature |
| url | http://dx.doi.org/10.1155/2020/2546190 |
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