Translational and clinical immunology
Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

https://doi.org/10.1016/j.jaci.2016.12.978Get rights and content

Background

Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and immune diseases, including allergy, autoimmunity, and inflammation.

Objective

We aimed at determining the incidence of autoimmunity and inflammation in patients with PIDs.

Methods

We have retrospectively screened 2183 consecutive cases of PID in the Centre de Référence Déficits Immunitaires Héréditaires registry (CEREDIH; the French national PID registry) for the occurrence of autoimmunity and inflammation.

Results

One or more autoimmune and inflammatory complications were noted in 26.2% of patients, with a risk of onset throughout the patient's lifetime. The risk of autoimmune cytopenia was at least 120 times higher than in the general population, the risk of inflammatory bowel disease in children was 80 times higher, and the risk of other autoimmune manifestations was approximately 10 times higher. Remarkably, all types of PIDs were associated with a risk of autoimmune and inflammatory complications, although the greatest risk was associated with T-cell PIDs and common variable immunodeficiency. The occurrence of autoimmune disease is a negative prognostic factor for survival.

Conclusions

Our results provide the basis for a detailed prospective evaluation of autoimmunity and inflammation in the context of PIDs, with a view to accurately assessing these risks and describing the possible effect of medical intervention.

Section snippets

Methods

We systematically screened patients with PIDs living in France for the occurrence of autoimmune or inflammatory complications (see Table E1 in this article's Online Repository at www.jacionline.org). Data were consecutively collected between September 1, 2013, and February 1, 2016, on 2183 patients either on initial registration in the CEREDIH database (hosted by the secured online ESID Registry, see www.esid.org) or during follow-up of previously registered patients.3 All of the data were

Overall frequency and distribution of autoimmune and inflammatory conditions

Of the 2183 surveyed patients (median age, 20 years; mean age, 25.8 years; range, 0.5-92 years), 571 (26.2%) had at least 1 autoimmune or inflammatory condition. The wide range of manifestations (n = 852) encompassed most of the known autoimmune diseases (Tables I and II and see Table E1), with the notable predominance of autoimmune cytopenia (mostly anemia, n = 110 manifestations), thrombocytopenia (n = 130 manifestations), or both. When comparing the study population with the general

Discussion

The present retrospective study is the first to report the frequency and distribution of autoimmune and inflammatory manifestations in a group of patients with PIDs. The study's nature (ie, retrospective and cross-sectional) was associated with some obvious limitations, despite the fact it is supported by a national registry. Given the importance of providing optimal care for patients with PIDs, our present results should be viewed as an incentive to launch a prospective analysis of

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    CEREDIH is supported by the French Association of Patients with Primary Immunodeficiencies (IRIS) and is funded by the French Ministry of Health. It additionally received unrestricted educational grants from LFB, GlaxoSmithKline, CSL Behring, Baxalta, Octapharma, Binding Site, and the patient associations AT-Europe and Trophée Guillaume.

    Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.

    Members of the Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), France: Daniel Adoue, MD; Nathalie Aladjidi, MD; Zahir Amoura, MD; Philippe Arlet, MD; Corinne Armari-Alla, MD; Brigitte Bader-Meunier, MD; Vincent Barlogis, MD; Sophie Bayart, MD; Beatrice Beaurain, BS; Yves Bertrand, MD, PhD; Boris Bienvenu, MD; Stéphane Blanche, MD; Damien Bodet, MD; Bernard Bonnotte, MD; Raphaël Borie, MD; Patrick Boutard, MD; Claire Briandet, MD; Jean-Paul Brion, MD; Carolina Brito, MSc; Jacques Brouard, MD; Emilie Catherinot, MD, PhD; Olivia Chandesris, MD; Sarah Cohen-Beaussant, MD; Hélène Coignard-Biehler, MD; Laurence Costes, BS; Louis-Jean Couderc, MD; Gérard Couillault, MD; Virginie Courteille, BS; Elodie Curlier, MD; Geneviève de Saint Basile, MD, PhD; François Demeocq, MD; Nathalie de Vergnes, BS; Catherine Devoldere, MD; Anne Deville, MD; Jean Donadieu, MD; Eric Dore, MD; Fabienne Dulieu, MD; Isabelle Durieu, MD; Christine Edan, MD; Natacha Entz Werle, MD; Claire Fieschi, MD, PhD; Fanny Fouyssac, MD; Pierre Frange, MD, PhD; Vincent Gajdos, MD, PhD; Lionel Galicier, MD; Virginie Gandemer, MD, PhD; Martine Gardembas, MD; Catherine Gaud, MD; Bernard Grosbois, MD; Gaelle Guillerm, MD; Eric Hachulla, MD; Mohamed Hamidou, MD; Sébastien Héritier, MD; Olivier Hermine, MD, PhD; Cyrille Hoarau, MD; Bruno Hoen, MD; Arnaud Hot, MD, PhD; Sébastien Humbert, MD; Arnaud Jaccard, MD; Serge Jacquot, MD; Jean-Philippe Jais, MD, PhD; Rolland Jaussaud, MD; Pierre-Yves Jeandel, MD; Eric Jeziorski, MD, PhD; Kamila Kebaili, MD; Anne-Sophie Korganow, MD; Philippe Labrune, MD; Olivier Lambotte, MD, PhD; Fanny Lanternier, MD, PhD; Claire Larroche, MD; Alain Le Quellec, MD; Emmanuelle Le Moigne, MD; Vincent Le Moing, MD; Yvon Lebranchu, MD; Marc Lecuit, MD, PhD; Guillaume Lefevre, MD; Richard Lemal, MD; Philippe Le Moine, MD; Valérie Li Thiao Te, MD; Olivier Lortholary, MD, PhD; Patrick Lutz, MD; Aude Magerus-Chatinet, PhD; Marion Malphettes, MD; Aude Marie-Cardine, MD; Nicolas Martin Silva, MD; Agathe Masseau, MD; Christian Massot, MD; Françoise Mazingue, MD; Etienne Merlin, MD; Gérard Michel, MD; Frédéric Millot, MD; Odile Minckes, MD; Béatrice Monlibert, MD; Fabrice Monpoux, MD, PhD; Despina Moshous, MD, PhD; Luc Mouthon, MD; Martine Munzer, MD; Bénédicte Neven, MD, PhD; Raphaëlle Nove-Josserand, MD; Eric Oksenhendler, MD, PhD; Marie Ouachée-Chardin, MD; Anne Pagnier, MD; Jean-Louis Pasquali, MD, PhD; Marlène Pasquet, MD; Isabelle Pellier, MD, PhD; Yves Perel, MD; Antoinette Perlat, MD; Capucine Picard, MD, PhD; Christophe Piguet, MD; Dominique Plantaz, MD; Pierre Quartier, MD; Frédéric Rieux-Laucat, PhD; Pascal Roblot, MD; Pierre-Marie Roger, MD; Pierre-Simon Rohrlich, MD; Bruno Royer, MD; Valéry Salle, MD; Françoise Sarrot-Reynauld, MD; Amélie Servettaz, MD; Jean-Louis Stephan, MD; Nicolas Schleinitz, MD; Felipe Suarez, MD, PhD; Laure Swiader, MD; Sophie Taque, MD; Caroline Thomas, MD; Olivier Tournilhac, MD; Caroline Thumerelle, MD; Jean-Pierre Vannier, MD; and Jean-François Viallard, MD.

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