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Vignesh, Pandiarajan and Sharma, Madhubala and Pilania, R.K. and Shandilya, J.K. and Kaur, Anit and Goel, Shubham and Kaur, Anupriya and Suri, Deepti and Rawat, Amit and Dalal, Ashwin and Sarma, A.S. and Singh, Surjit (2019) Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect. Journal of Clinical Immunology, 39 (6). pp. 611-615. ISSN 0271-9142

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Abstract

Chronic granulomatous disease (CGD) is a phagocytic disorder affecting the NADPH oxidase complex [1]. Mutations in the CYBB gene result in X-linked form of CGD (XL-CGD). Female carriers of XL-CGD are known to have autoimmune phenomenon, and extreme lyonization of the X chromosome in female carriers could also result in deficient gp91phox protein and manifestations of CGD [2]. We report a family with X-linked CGD due to a novel CYBB defect where the index patient had a severe form of CGD, sister had manifestations of CGD, and carrier mother had manifestations of lupus.

Item Type: Article
Subjects: Genetics
Depositing User: Dr P Divakar
Date Deposited: 26 Jul 2019 09:38
Last Modified: 21 Aug 2019 20:16
URI: http://cdfd.sciencecentral.in/id/eprint/912

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