{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:26:44Z","timestamp":1784204804054,"version":"3.55.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T00:00:00Z","timestamp":1774396800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"\n Background<\/jats:title>\n \n Chronic granulomatous disease (CGD) is an inborn error of immunity caused by genetic defects in the nicotinamide adenine dinucleotide phosphate oxidase complex, resulting in recurrent severe infections and excessive inflammatory responses. CGD is inherited in X-linked recessive and autosomal recessive patterns. X-linked variants occur in the\n CYBB<\/jats:italic>\n gene, whereas autosomal recessive variants are found in the\n CYBA, NCF1, NCF2, NCF4<\/jats:italic>\n , and\n CYBC1<\/jats:italic>\n genes.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n This study analyzed data from 14 CGD patients across 12 families using functional, molecular, and genetic approaches. Among the patients, 11 (78.6%) had autosomal recessive inheritance, and 3 (21.4%) had X-linked recessive inheritance. The most common variants were in the\n NCF2<\/jats:italic>\n gene, followed by the\n CYBB<\/jats:italic>\n ,\n CYBA<\/jats:italic>\n , and\n NCF1<\/jats:italic>\n variants. Consanguinity was observed in 72.7% of the autosomal recessive-CGD families. The most frequent clinical manifestations were lymphadenopathy (71.4%) and gastrointestinal symptoms (64.2%), followed by pulmonary symptoms, organomegaly, and abscesses (57%). The median age at diagnosis was 3 years, with a diagnostic delay ranging from 0 to 4 years, with an average of 17 months.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n This study aims to increase awareness among Palestinian healthcare providers and encourage early consideration of CGD in patients with recurrent infections, even in late childhood.<\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1764101","type":"journal-article","created":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T10:57:59Z","timestamp":1774436279000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics"],"prefix":"10.3389","volume":"17","author":[{"given":"Fatima az-Zahra","family":"Thawabteh","sequence":"first","affiliation":[{"name":"Medical Research Club, Faculty of Medicine, Al-Quds University","place":["Jerusalem, Palestine"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sedrah","family":"Abu Rmilah","sequence":"additional","affiliation":[{"name":"Medical Research Club, Faculty of Medicine, Al-Quds University","place":["Jerusalem, Palestine"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aya","family":"Siaj","sequence":"additional","affiliation":[{"name":"Medical Research Club, Faculty of Medicine, Al-Quds University","place":["Jerusalem, Palestine"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rawan","family":"Abu khdair","sequence":"additional","affiliation":[{"name":"Medical Research Club, Faculty of Medicine, Al-Quds University","place":["Jerusalem, Palestine"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabee","family":"Adwan","sequence":"additional","affiliation":[{"name":"Infectious Diseases Specialist, Al-Makassed Hospital","place":["East-Jerusalem, Palestine"]},{"name":"Pediatrics Department, Faculty of Medicine, Al-Quds University","place":["Jerusalem, Palestine"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1007\/s12016-020-08800-x","article-title":"Chronic granulomatous disease: a comprehensive review","volume":"61","author":"Yu","year":"2021","journal-title":"Clin Rev Allergy Immunol"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1111\/cei.13474","article-title":"Late diagnosis of chronic granulomatous disease","volume":"201","author":"Barkai","year":"2020","journal-title":"Clin Exp Immunol"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2023.1228161\/full","article-title":"Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center","volume":"14","author":"Al Kuwaiti","year":"2023","journal-title":"Front Immunol"},{"key":"B4","doi-asserted-by":"crossref","first-page":"109761","DOI":"10.1016\/j.clim.2023.109761","article-title":"A novel mutation in EROS (CYBC1) causes chronic granulomatous disease","volume":"255","author":"Mortimer","year":"2023","journal-title":"Clin Immunol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1035673\/full","article-title":"Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review","volume":"13","author":"Sun","year":"2022","journal-title":"Front Genet"},{"key":"B6","doi-asserted-by":"crossref","first-page":"4435","DOI":"10.3390\/jcm13154435","article-title":"Diagnosis of chronic granulomatous disease: strengths and challenges in the genomic era","volume":"13","author":"O\u2019Donovan","year":"2024","journal-title":"J Clin Med"},{"key":"B7","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1002\/ajh.24573","article-title":"Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. 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