Laboratory, Clinical and Genetic Characteristics of Cases with Chronic Granulomatous Diseases: the Erciyes University Experience

Objective: Chronic granulomatous disease (CGD) is a rare innate immune deficiency with neutrophil function disorder. In this retrospective study, we aimed to evaluate the clinical features of the patients with CGD. Material and Methods: The files of seven patients diagnosed as CGD were retrospectively evaluated in this study. The initial complaints, age at diagnosis, consanguinity of the parents, similar disease history or death of the siblings, physical examination, diagnostic tests, clinical courses, and genetic characteristics were analyzed. Results: The initial complaints started before the age of one in three patients; whereas only two patients were diagnosed before the first birthday. Lymphadenomegaly, suppurative infections, pneumonia and diarrhea were the most noted initial complaints. All parents were consanguineous. The clinical features were mild; and the ages of diagnosis were late in patients with p47 and p67 mutations. The patient with X linked CGD was diagnosed when he was 3 months old; his clinical course was complicated with chronic otitis media, zygomatic abscess, lung abscess, and facial paralysis. The patient with p22 mutation was diagnosed at two months of age; and gastric wall granuloma with inflammation in the proximal femur were detected. Conclusion: The results of the present study are in agreement with the literature, where disease onset was earlier and clinical course was more severe in patients displaying X-linked inheritance. However, age of disease onset and diagnosis were usually more delayed and the clinical course was milder in cases with p47 defect. Complications could be avoided with early diagnosis and appropriate prophylaxis by improving awareness of CGD in our country where intermarriage is common.