title: Prevalence of autoantibodies in the course of Gaucher disease type 1: A multicenter study comparing Gaucher disease patients to healthy subjects.
abstract: Type 1 Gaucher disease may be related to the presence of autoantibodies. Their clinical significance is questioned. Primary endpoint was to compare the prevalence of autoantibodies in type 1 Gaucher disease patients with healthy subjects, seeking correlations with autoimmune characteristics. Secondary endpoints were to determine whether patients with autoantibodies reported autoimmunity-related symptoms and if genotype, splenectomy or treatment influenced autoantibodies presence.
  
  
  
  Type 1 Gaucher disease patients and healthy volunteers were included in this national multicenter exploratory study. Autoantibodies presence was compared in both groups and assessed regarding to genotype, splenectomy, Gaucher disease treatment and autoimmunity-related symptoms.
  
  
  
  Twenty healthy subjects and 40 type 1 Gaucher disease patients were included. Of the studied group: 15 patients undergone splenectomy, 37 were treated either with enzyme replacement therapy (34) or with substrate reduction therapy (3), 25 were homozygous/heterozygous for the N370S mutation. In type 1 Gaucher disease group (studied group), 52% had positive autoantibodies versus 26% in control group. Antiphospholipid antibodies were more frequent in the studied group (30% vs. 5%), but without correlation to thrombosis, osteonecrosis or bone infarcts. In the studied group, antinuclear antibodies were more frequent (25% vs. 16%). None of the patients with autoantibodies had clinical manifestations of autoimmune diseases. Autoantibodies were not correlated with treatment, genotype, or splenectomy, except for anticardiolipid, more frequent in splenectomized patients.
  
  
  
  In type 1 Gaucher disease, autoantibodies were more frequent compared to a healthy population. However, they were not associated with an increased prevalence of clinical active autoimmune diseases.
authors.affiliation: Internal Medicine Department, Hôpital Saint Joseph, 26, bd de Louvain, 13008 Marseille, France; Internal Medicine Department, University Hospital of Geneva, Rue Gabrielle-Perret-Gentil 4, 1205 Geneva, Switzerland. Electronic address: cserratrice@hotmail.fr.
authors.forename: Christine
authors.initials: C
authors.lastname: Serratrice
authors.affiliation: Immunology Laboratory, University Hôpital La Conception, 147, boulevard Baille, 13005 Marseille, France.
authors.forename: Nesma
authors.initials: N
authors.lastname: Bensalah
authors.affiliation: Alphabio Laboratory, Hôpital Européen, 6, Rue Désirée Clary, 13003 Marseille, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Penaranda
authors.affiliation: Immunology Laboratory, University Hôpital La Conception, 147, boulevard Baille, 13005 Marseille, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Bardin
authors.affiliation: Internal Medicine Department, Hôpital Beaujon, 100, Boulevard du Général Leclerc, 92110 Clichy, France.
authors.forename: Nadia
authors.initials: N
authors.lastname: Belmatoug
authors.affiliation: Internal Medicine Department, CHU, 44093 Nantes cedex 1, France.
authors.forename: Agathe
authors.initials: A
authors.lastname: Masseau
authors.affiliation: Internal Medicine Department, Catholic University, 60, Boulevard Vauban, 59800 Lille, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Rose
authors.affiliation: Internal Medicine and Rheumatology Department, Hôpital La Croix Saint Simon, 75020 Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Lidove
authors.affiliation: Intensive Care Department, Hôpital Pellegrin, Place Amélie Raba Léon, 33076 Bordeaux, France.
authors.forename: Fabrice
authors.initials: F
authors.lastname: Camou
authors.affiliation: CHRU, Université François Rabelais, INSERM 1069, 10, boulevard Tonnellé, 37032 Tours Cedex, France.
authors.forename: François
authors.initials: F
authors.lastname: Maillot
authors.affiliation: Internal Medicine and Clinical Immunology Department, CHU, 4, rue Paul Gaffarel, BP 77908, 21079 Dijon, France.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Leguy
authors.affiliation: Internal Medicine Department, Hôpital Minjoz, 3, Boulevard A. Fleming, 25000 Besançon, France.
authors.forename: Nadine
authors.initials: N
authors.lastname: Magy-Bertrand
authors.affiliation: Internal Medicine Department, CHU, 1, rue de Germont, 76031 Rouen, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Marie
authors.affiliation: Internal Medicine Department, CHU la Pitié Salpêtrière, 47-83, Boulevard de l'Hôpital, 75013 Paris, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Cherin
authors.affiliation: Internal Medicine Department, Hôpital Beaujon, 100, Boulevard du Général Leclerc, 92110 Clichy, France.
authors.forename: Monia
authors.initials: M
authors.lastname: Bengherbia
authors.affiliation: Internal Medicine Department, University Hospital of Geneva, Rue Gabrielle-Perret-Gentil 4, 1205 Geneva, Switzerland.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Carballo
authors.affiliation: Immunology Laboratory, University Hôpital La Conception, 147, boulevard Baille, 13005 Marseille, France.
authors.forename: José
authors.initials: J
authors.lastname: Boucraut
authors.affiliation: Internal Medicine Department, University Hospital of Geneva, Rue Gabrielle-Perret-Gentil 4, 1205 Geneva, Switzerland.
authors.forename: Jacques
authors.initials: J
authors.lastname: Serratrice
authors.affiliation: Hematology Biology, CHU Estaing, 1, Rue Lucie Aubrac, 63100 Clermont Ferrand, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Berger
authors.affiliation: Internal Medicine Department, Hôpital Saint Joseph, 26, bd de Louvain, 13008 Marseille, France.
authors.forename: Denis
authors.initials: D
authors.lastname: Verrot
mesh_terms: D000328:Adult; D000368:Aged; D001323:Autoantibodies / Q000276:immunology*; D001327:Autoimmune Diseases / Q000453:epidemiology / Q000276:immunology* / Q000628:therapy; D015551:Autoimmunity; D056947:Enzyme Replacement Therapy; D005060:Europe / Q000453:epidemiology; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology / Q000276:immunology* / Q000628:therapy; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D013156:Splenectomy
chemical_list: D001323:Autoantibodies
keywords: Antibodies; Antinuclear; Antiphospholipid; Auto immunity; Gaucher disease