{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12"],"submitter":["Bakri FG"],"pubmed_abstract":["Chronic granulomatous Disease (CGD) is a rare innate immunodeficiency disorder caused by mutations in one of the six genes (<i>CYBA, CYBB, NCF1, NCF2, NCF4</i>, and <i>CYBC1</i>/EROS) encoding the superoxide-producing nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase complex in phagocytes. In the Western population, the most prevalent form of CGD (about two-thirds of all cases) is the X-linked form (X-CGD) caused by mutations in <i>CYBB</i>. The autosomal recessive forms (AR-CGD), due to mutations in the other genes, collectively account for the remaining one-third of CGD cases. We investigated the clinical and molecular features of 22 Jordanian, 7 Libyan, and 2 Iraqi CGD patients from 21 different families. In addition, 11 sibling patients from these families were suspected to h"],"journal":["Frontiers in immunology"],"pagination":["639226"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7973097"],"repository":["biostudies-literature"],"pubmed_title":["Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq."],"pmcid":["PMC7973097"],"pubmed_authors":["Rendu J","Al-Wahadneh AM","Sarhan MM","Mollin M","Bakri FG","Alzyoud RM","Vigne B","Al-Ramahi JAW","Stasia MJ","Shukair MEA","Faure J","Hayajneh WA","Roux-Buisson N","Karadshe MF","Daoud AK","Beaumel S"],"additional_accession":[]},"is_claimable":false,"name":"Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.","description":"Chronic granulomatous Disease (CGD) is a rare innate immunodeficiency disorder caused by mutations in one of the six genes (<i>CYBA, CYBB, NCF1, NCF2, NCF4</i>, and <i>CYBC1</i>/EROS) encoding the superoxide-producing nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase complex in phagocytes. In the Western population, the most prevalent form of CGD (about two-thirds of all cases) is the X-linked form (X-CGD) caused by mutations in <i>CYBB</i>. The autosomal recessive forms (AR-CGD), due to mutations in the other genes, collectively account for the remaining one-third of CGD cases. We investigated the clinical and molecular features of 22 Jordanian, 7 Libyan, and 2 Iraqi CGD patients from 21 different families. In addition, 11 sibling patients from these families were suspected to h","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2025-04-22T08:18:12.649Z","creation":"2024-12-04T06:31:49.563Z"},"accession":"S-EPMC7973097","cross_references":{"pubmed":["33746979"],"doi":["10.3389/fimmu.2021.639226"]}}