Gul, YahyaHazar, EsraKapakli, HasanGuner, Sukru NailNayir, RabiaKutuk, SinanKoker, Mustafa Yavuz2026-01-242026-01-2420251875-95722212-1692https://doi.org/10.1016/j.pedneo.2024.02.008https://hdl.handle.net/20.500.12868/5776Background: 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.eninfo:eu-repo/semantics/openAccessChronic granulomatous diseasePrimary immunodeficiencyLymphadenitisLung infectionsGranulomaArticle10.1016/j.pedneo.2024.02.008662134141389181672-s2.0-85196815805Q2WOS:001455747100001Q2