title: Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus.
abstract: OBJECTIVE
  Studies of early-onset systemic lupus erythematosus (SLE) have identified monogenic forms of the disease. The primary objective of this study was to compare the clinical and laboratory features of the first patients included in the GENIAL/LUMUGENE cohort to those reported in previous publications. The secondary objective was to determine whether subgroups with a distinctive pattern of clinical and biological features are seen in predominantly genetic forms of SLE.
  
  
  METHODS
  GENIAL/LUMUGENE is a French nationwide study of the clinical, immunological, and genetic features of juvenile-onset SLE (clinicaltrials.gov #NCT01992666). Clinical and laboratory data from the first 64 patients younger than 18 years who were included in the first part of the study were collected retrospectively. Predefined criteria were used to divide the patients into three subgroups: syndromic SLE (n=10) and familial SLE (n=12) - both presumed to have a strong genetic component - and other forms of early-onset SLE (n=42).
  
  
  RESULTS
  The predefined criteria for identifying subgroups based on knowledge of the clinical and epidemiological features of monogenic SLE showed a significantly younger age at onset in syndromic SLE (P<0.05) and a lower frequency of joint manifestations in familial SLE.
  
  
  CONCLUSIONS
  In this study, clinical and epidemiological data alone failed to identify a specific patient subgroup characterized by the same disease presentation or progression. This result may be related to the small sample size or indicate marked heterogeneity of juvenile-onset SLE. Genetic studies using new sequencing techniques in these patients might identify genetic factors responsible for marked phenotypic variability.
authors.affiliation: Service de Médecine Interne, Néphrologie, Rhumatologie-hypertension pédiatrique, Centre de Référence des maladies Rénales Rares du Sud Ouest, SORARE, Hôpital des enfants, CHU de Toulouse, 31059 Toulouse, France.
authors.forename: Olivia
authors.initials: O
authors.lastname: Weill
authors.affiliation: Service de Médecine Interne, Néphrologie, Rhumatologie-hypertension pédiatrique, Centre de Référence des maladies Rénales Rares du Sud Ouest, SORARE, Hôpital des enfants, CHU de Toulouse, 31059 Toulouse, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Decramer
authors.affiliation: Service d'Immunologie, Hôpital Edouard Herriot, Hospices Civils de Lyon, 69437 Lyon, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Malcus
authors.affiliation: EPICIME-CIC 1407 de Lyon, Inserm, Service de Pharmacotoxicologie, CHU-Lyon, 69677 Bron, France; Université de Lyon, Université Lyon 1, CNRS, UMR 5558, Laboratoire de Biométrie et Biologie Evolutive, 69622 Villeurbanne, France.
authors.forename: Behrouz
authors.initials: B
authors.lastname: Kassai
authors.affiliation: Centre de biotechnologie cellulaire et Biothèque, Groupe Hospitalier Est, Hospices Civils de Lyon, 69677 Bron, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Rouvet
authors.affiliation: EPICIME-CIC 1407 de Lyon, Inserm, Service de Pharmacotoxicologie, CHU-Lyon, 69677 Bron, France.
authors.forename: Tiphanie
authors.initials: T
authors.lastname: Ginhoux
authors.affiliation: Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Hôpital Necker-Enfants-Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France.
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
authors.affiliation: INSERM UMR 1163, Laboratoire d'immunogénétique des maladies auto-immunes pédiatriques, Institut Imagine, 75015 Paris, France.
authors.forename: Fredéric
authors.initials: F
authors.lastname: Rieux-Laucat
authors.affiliation: CNRS UPR 3572 "Immunopathology and Therapeutic Chemistry"/Laboratory of Excellence Medalis, Institute of Molecular and Cellular Biology (IBMC), Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Hôpitaux Universitaires de Strasbourg, UFR Sciences pharmaceutiques, Université de Strasbourg, 67200 Illkirch-Graffenstaden, France.
authors.forename: Pauline
authors.initials: P
authors.lastname: Soulas-Sprauel
authors.affiliation: Service de rhumatologie pédiatrique, CHU de Grenoble, 38700 La Tronche, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Pagnier
authors.affiliation: Service de Rhumatologie Pédiatrique - Centre de Référence des maladies auto-inflammatoires de l'enfant (CeRéMAI), CHU de Bicêtre, APHP, Université Paris-Saclay, Université Paris Sud, 94276 Kremlin Bicêtre, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Koné-Paut
authors.affiliation: Service de Rhumatologie Pédiatrique - Centre de Référence des maladies auto-inflammatoires de l'enfant (CeRéMAI), CHU de Bicêtre, APHP, Université Paris-Saclay, Université Paris Sud, 94276 Kremlin Bicêtre, France.
authors.forename: Maryam
authors.initials: M
authors.lastname: Piram
authors.affiliation: Service de Rhumatologie Pédiatrique - Centre de Référence des maladies auto-inflammatoires de l'enfant (CeRéMAI), CHU de Bicêtre, APHP, Université Paris-Saclay, Université Paris Sud, 94276 Kremlin Bicêtre, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Galeotti
authors.affiliation: Unité de Néphrologie Pédiatriques, CHU de Lille, 59000 Lille, France.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Samaille
authors.affiliation: Unité de Néphrologie Pédiatriques, CHU de Lille, 59000 Lille, France.
authors.forename: Héloïse
authors.initials: H
authors.lastname: Reumaux
authors.affiliation: Service de médecine interne, centre national de référence des maladies auto-immunes et systémiques rares, Hôpital Claude Huriez, FHU IMMNeNT, Université de Lille, 59037 Lille, France.
authors.forename: Aurélia
authors.initials: A
authors.lastname: Lanteri
authors.affiliation: Service de médecine interne, centre national de référence des maladies auto-immunes et systémiques rares, Hôpital Claude Huriez, FHU IMMNeNT, Université de Lille, 59037 Lille, France.
authors.forename: Sandrine Morell
authors.initials: SM
authors.lastname: Dubois
authors.affiliation: Service de médecine interne, centre national de référence des maladies auto-immunes et systémiques rares, Hôpital Claude Huriez, FHU IMMNeNT, Université de Lille, 59037 Lille, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Lefebvre
authors.affiliation: Centre de néphrologie et de transplantation rénale, Aix-Marseille Université, Assistance publique-hôpitaux de Marseille, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Burtey
authors.affiliation: Médecine Interne, Hôpitaux privés de Metz, 57070 Metz, France.
authors.forename: François
authors.initials: F
authors.lastname: Maurier
authors.affiliation: Service de pédiatrie, CHU Montpellier, 34295 Montpellier, France.
authors.forename: Aurélia
authors.initials: A
authors.lastname: Carbasse
authors.affiliation: Service d'Hémato-Onco Pédiatrie, CHRU Nancy, 54511 Vandoeuvre les Nancy, France.
authors.forename: Irène
authors.initials: I
authors.lastname: Lemelle
authors.affiliation: Service de Pédiatrie Générale, Maladies Infectieuses et Médecine Interne Pédiatrique, Hôpital Robert Debré, APHP, INSERM, U1149, Centre de recherche sur l'inflammation, 75019 Paris, France.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Meinzer
authors.affiliation: Service de Pédiatrie Grands Enfants-Adolescents, CHU Hôpital Sud, 35033 Rennes, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Despert
authors.affiliation: Service de Pédiatrie, CHU La Réunion Site de Saint-Pierre, BP 350, 97448 Saint-Pierre, France.
authors.forename: Hugues
authors.initials: H
authors.lastname: Flodrops
authors.affiliation: Laboratoire d'autoimmunité, Service d'immunologie humorale, Hospices Civils de Lyon, CHLS, 69495 Pierre-Bénite, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Fabien
authors.affiliation: Immunologie et rhumatologie pédiatrique, Hôpital Necker, APHP, 75015 Paris, France.
authors.forename: Bruno
authors.initials: B
authors.lastname: Ranchin
authors.affiliation: Service de médecine interne, centre national de référence des maladies auto-immunes et systémiques rares, Hôpital Claude Huriez, FHU IMMNeNT, Université de Lille, 59037 Lille, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Hachulla
authors.affiliation: Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Hôpital Necker-Enfants-Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Service de néphrologie et rhumatologie pédiatrique, hôpital Femme-Mère-Enfant et université de Lyon 1, INSERM U1111, 69677 Bron, France.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Bader-Meunier
authors.affiliation: Immunologie et rhumatologie pédiatrique, Hôpital Necker, APHP, 75015 Paris, France. Electronic address: alexandre.belot@chu-lyon.fr.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Belot
mesh_terms: D000293:Adolescent; D000367:Age Factors; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D010641:Phenotype; D012189:Retrospective Studies; D018570:Risk Assessment; D012720:Severity of Illness Index; D012737:Sex Factors
keywords: Autoimmunity; Genetics; Monogenic lupus; Pediatrics; Systemic lupus erythematosus