Chronic granulomatous disease: A single-center experience in Central Anatolia

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dc.authorid0000-0002-8860-6132
dc.authorid0000-0001-8247-6405
dc.authorid0000-0001-7061-8525
dc.authorid0000-0001-7015-6762
dc.contributor.authorGul, Yahya
dc.contributor.authorHazar, Esra
dc.contributor.authorKapakli, Hasan
dc.contributor.authorGuner, Sukru Nail
dc.contributor.authorNayir, Rabia
dc.contributor.authorKutuk, Sinan
dc.contributor.authorKoker, Mustafa Yavuz
dc.date.accessioned2026-01-24T12:31:17Z
dc.date.available2026-01-24T12:31:17Z
dc.date.issued2025
dc.departmentAlanya Alaaddin Keykubat Üniversitesi
dc.description.abstractBackground: Chronic granulomatous disease (CGD), one of the phagocytic cell defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex in neutrophils. Methods: The clinical, demographic and laboratory findings of 17 CGD patients who were followed-up between 2002 and 2021 were obtained retrospectively from the records of the patients. Results: The number of male and female patients was 10/7. The median age at diagnosis was 5.3 months (range 4-120) for 3 patients with X-CGD, and 42.4 months (range 8-350) for 14 patients with AR-CGD. We have investigated rare CYBA exon 3-6 deletion in 7 patients and hotspot mutation with delGT at the beginning of exon 2 of NCF1 in 5 patients. The most common clinical findings were pneumonia and lymphadenitis with recurrent fever, respectively (41.2%, 35.3%). A total of 154 microbial infections requiring hospital admission (27 in 3 XL and 127 in 14 AR patients) were detected in the follow-up of the patients and median infection number for a patient was 9 in both groups. Eight of 17 patients had stem cell transplantation and the survival rate was 87.5%. Conclusions: X-CGD patients are more rapidly recognized by family history and severe infections than those with AR-CGD and early prophylaxis may decrease infectious episodes. We have investigated the large deletion suggesting a possible founder effect for CYBA exon 3-6 deletion in Central Anatolia. Additionally, HSCT transplantation leads to a high survival rate for the patients with CGD.
dc.description.sponsorshipUniversity of Erciyes BAP [TSAUE-2023-12509]
dc.description.sponsorshipM.Y.K., R.N. and S.Kue. are grateful for financial support from the University of Erciyes BAP, within the (ADEP) TSAUE-2023-12509 projects.
dc.identifier.doi10.1016/j.pedneo.2024.02.008
dc.identifier.endpage141
dc.identifier.issn1875-9572
dc.identifier.issn2212-1692
dc.identifier.issue2
dc.identifier.pmid38918167
dc.identifier.scopus2-s2.0-85196815805
dc.identifier.scopusqualityQ2
dc.identifier.startpage134
dc.identifier.urihttps://doi.org/10.1016/j.pedneo.2024.02.008
dc.identifier.urihttps://hdl.handle.net/20.500.12868/5776
dc.identifier.volume66
dc.identifier.wosWOS:001455747100001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier Taiwan
dc.relation.ispartofPediatrics and Neonatology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20260121
dc.subjectChronic granulomatous disease
dc.subjectPrimary immunodeficiency
dc.subjectLymphadenitis
dc.subjectLung infections
dc.subjectGranuloma
dc.titleChronic granulomatous disease: A single-center experience in Central Anatolia
dc.typeArticle

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