Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

卷:134

Article

Magnani, Alessandra^1,2,3  Brosselin, Pauline^2,3  Beaute, Julien²  de Vergnes, Nathalie^2,3  Mouy, Richard¹  Debre, Marianne^1,2  Suarez, Felipe^2,3,4  Hermine, Olivier^2,3,4  Lortholary, Olivier^2,3,5  Blanche, Stephane^1,2,3  Fischer, Alain^1,2,3,6  Mahlaoui, Nizar^1,2,3,7 

[1] Hop Univ Necker Enfants Malades, AP HP, Serv Immunohematol & Rhumatol Pediat, Paris, France

[2] Hop Necker Enfants Malad, AP HP, Ctr Reference Deficits Immunitaires Hereditaires, Paris, France

[3] Univ Paris 05, Inst Imagine, Sorbonne Paris Cite, Paris, France

[4] Hop Univ Necker Enfants Malades, AP HP, Serv Hematol Adultes, Paris, France

[5] Hop Univ Necker Enfants Malades, AP HP, Serv Malad Infect & Trop, Paris, France

[6] Coll France, Paris, France

[7] Hop Univ Necker Enfants Malades, INSERM, Lab Genet Humaine Malad Infect, U1163, Paris, France

关键词: Chronic granulomatous disease;    inflammation;    primary immunodeficiency;    granuloma;    inflammatory bowel diseases;    macrophage;    granulomatous;    interstitial lung disease;   

DOI  :  10.1016/j.jaci.2014.04.014

来源: Elsevier

【 摘 要 】

Background: Chronic granulomatous disease (CGD) is a rare phagocytic disorder that results in not only infections but also potentially severe inflammatory manifestations that can be difficult to diagnose and treat. Objective: To describe inflammatory manifestations in a single-center cohort of patients with CGD. Methods: Medical records of patients treated at Necker-Enfants Malades Hospital (Paris, France) between 1968 and 2009 and registered at the French National Reference Center for Primary Immunodeficiencies (CEREDIH) were retrospectively reviewed. Results: In a study population of 98 patients, a total of 221 inflammatory episodes were recorded in 68 individuals (69.4%). The incidence rate of inflammatory episodes was 0.15 per person-year (0.18 in patients with X-linked [XL] CGD and 0.08 in patients with autosomal-recessive [AR] CGD). The most commonly affected organs were the gastrointestinal tract (in 88.2% of the patients), lungs (26.4%), the urogenital tract (17.6%), and eyes (8.8%). Inflammation at other sites (the skin, central nervous system, and tympanum) and autoimmune manifestations (lupus, arthritis, etc) were recorded in 19.1% and 10.3% of the patients, respectively. Granuloma was found in 50% of the 44 histological analyses reviewed. The risk of inflammatory episodes was 2-fold higher in patients with XL-CGD than in patients with AR-CGD (relative risk, 2.22; 95% CI, 1.43-3.46). Conclusions: Patients with XL-CGD have a higher risk of developing inflammatory episodes than do patients with AR-CGD. Although the most commonly affected organ is the gastrointestinal tract, other sites can be involved, making the management of patients with CGD a complex, multidisciplinary task.

【 授权许可】

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