Immune deficiencies, infection, and systemic immune disordersInflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease
Section snippets
Methods
In accordance with French regulatory requirements, informed consent was obtained from patients and/or parents on registration in the French National Center for Primary Immunodeficiencies registry (CEREDIH).38 In this context, we carried out a retrospective analysis of the medical records of patients with CGD referred to Necker-Enfants Malades Hospital, Paris, between April 1968 and June 2009. CGD was defined as the presence of a characteristic mutation and/or the absence of (or a strong
Characteristics of the study population
The final study population comprised 98 patients (from 85 kindreds). Of these, 70 (71.4%) had XL-CGD, 20 (20.4%) had AR-CGD, and 8 (8.1%) had CGD of unknown inheritance (see Table I). Within the AR-CGD group, defects in p47phox were the most prevalent (50%), followed by defects in p22phox (30%) and p67phox (20%). There were no significant differences between the XL and AR subgroups in terms of age at diagnosis, at disease onset, and at first episode and the duration of follow-up. In contrast,
Discussion
Although infections in CGD have been studied in depth over the last few decades, data on inflammatory complications are less abundant. Our retrospective study of a large, single-center cohort of patients provides an overview of these manifestations. We found a higher prevalence of inflammatory manifestations (69.4%) than reported in the literature.7, 34, 36 Moreover, 85% of our patients had experienced their first inflammatory episode by the age of 20 years. Our cohort is similar to other large
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Cited by (0)
This study was funded by the French Ministry of Health and received additional support from the French Association of Patients with Primary Immunodeficiencies (IRIS: Immuno-déficience primitive-recherche-information-soutien). The Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH) received unrestricted educational grants from LFB, CSL Behring, Baxter Biosciences, GSK, Pfizer, Octapharma, and Orphan-Europe.
Disclosure of conflicts of interest: The authors declare that they have no relevant conflicts of interest.