Genotype distribution at il28b rs12979860 polymorphism in apparent healthy bangladeshi population

Amany AlAmoudi,Ammar AlDabbagh, Salem, Bazarah, Ahmed Helmy, Aya Mohamed Mahrous, Reem, Mohamed Ali, Yehia Taha Kishk,Kanan Alshammari, Adnan, Alzanbaqi, Murooj Alsubhi,Ashwaq Alolayan,Ahmed Alshehri

semanticscholar(2020)

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摘要
SJG2020/02 CHRONIC GRANULOMATOUS DISEASE WITH LIVER ABSCESS IN YOUNG MALE: A CASE REPORT Oweida Aldoseri, Khulood AlJohani, Rana Almosa Department of Medicine, Gastroenterology Unit, King Fahd Medical City, Riyadh, Saudi Arabia E-mail: kh-medicine@hotmail.com Case Report: Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency caused by functional impairment of the nicotinamide adenine dinucleotide phosphate oxidase complex in neutrophilic granulocytes and monocytes and characterized by recurrent and severe infections, dysregulated inflammation, and autoimmunity. We report the case of an 18-year-old Saudi male, medically free with a stunted growth admitted to the Hepatobiliary Department at King Fahad Medical City in Riyadh, Saudi Arabia, in December 2018 as a case of liver abscesses with right-sided pleural effusion based on abdominal computed tomographic scan findings for drainage. The culture grew communityacquired methicillin-resistant Staphylococcus aureus. Discussion: A literature review was conducted using the databases PubMed and Google Scholar for the incidence rate of CGD in Saudi Arabia. Up to our knowledge, few cases were reported and all of them were in a young female. In general, patients with X-linked CGD have a more severe disease course with earlier age at presentation and earlier age of death. Herein, we report case of an 18-year-old male with CGD who had unusual clinical presentation and unexpectedly good outcome which considered as the first case of CGD in the adult male.
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