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Chronic Granulomatous Disease in children: a single center experience
Alessandra Beghin1, Marta Comini1, Annarosa Soresina2
1Stem Cell Laboratory, Section of Hematology and Blood Coagulation, Clinical Chemistry Laboratory, Diagnostics Department, ASST Spedali Civili of Brescia, Brescia, Italy.
Insights
Chronic Granulomatous Disease (CGD) impairs phagocyte function. This study analyzed 14 CGD patients, identifying new mutations and highlighting the importance of detailed characterization for treatment and genetic counseling.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Chronic Granulomatous Disease (CGD) results from phagocyte dysfunction in pathogen killing.
- CGD has both X-linked and autosomal recessive inheritance patterns.
Purpose of the Study:
- To analyze cellular, molecular, and clinical features of young CGD patients.
- To identify new genetic mutations associated with CGD.
- To evaluate the impact of genotype on clinical presentation and survival.
Main Methods:
- Retrospective analysis of 14 pediatric CGD patients (1999-2016).
- Genetic mutation analysis (CYBB, NCF1 genes).
- Clinical follow-up and survival data collection.
Main Results:
- Two novel mutations identified: one in CYBB, one in NCF1.
- Overall survival was 67% (40% X-linked, 86% autosomal recessive).
- No clear correlation found between clinical symptoms and mutation type.
Conclusions:
- Detailed patient characterization is crucial for therapeutic decisions, genetic counseling, and prenatal diagnosis in CGD.
- Autosomal recessive CGD showed better survival rates than X-linked in this cohort.
- Hematopoietic Stem Cell Transplantation (HSCT) was utilized in 8 patients.
Abstract:
Chronic Granulomatous Disease (CGD) is caused by the failure of the phagocytes to kill pathogens. We carried out a retrospective analysis of cellular, molecular and clinical features of 14 young patients (mean age at the onset of symptoms and diagnosis: 10 and 25months, respectively), 7 with autosomal recessive and 7 X-linked form, referred to the Children's Hospital of Brescia between 1999 and 2016. Two new mutations were found, one localized in the CYBB and one in the NCF1 genes. Twelve patients were followed in our institution; the average length of their follow-up after diagnosis was 66months in X-linked patients and 126months in autosomal recessive inheritance. The overall survival was 67%, 40% in X-linked and 86% in autosomal recessive form. Eight patients were treated with HSCT. We did not find a clear correlation between the clinical symptoms and the type of mutation, but the fine characterization of the patients was mandatory for therapeutic option, genetic counseling and prenatal diagnosis.
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