Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus.

Olivia Weill (1) , Stéphane Decramer (1) , Christophe Malcus (2) , Behrouz Kassai (3, 4) , Isabelle Rouvet (5) , Tiphanie Ginhoux (4) , Yanick Crow (6) , Frédéric Rieux-Laucat (7) , Pauline Soulas-Sprauel (8) , Anne Pagnier (9) , Isabelle Kone-Paut (9) , Maryam Piram (9) , Caroline Galeotti (9) , Charlotte Samaille (10) , Héloïse Reumaux (10) , Aurélia Lanteri (11) , Sandrine Morell Dubois (11) , Hélène Lefebvre (11) , Stéphane Burtey (12) , François Maurier (13) , Aurélia Carbasse (14) , Irène Lemelle (15) , Ulrich Meinzer (16) , Véronique Despert (17) , Hugues Flodrops (18) , Nicole Fabien (2) , Bruno Ranchin (19) , Eric Hachulla (20) , Brigitte Bader-Meunier (21) , Alexandre Belot (22, 23)

1 Service de Pédiatrie - Néphrologie, Médecine interne, Hypertension
2 Service d'immunologie [Centre Hospitalier Lyon Sud - HCL]
3 Evaluation et modélisation des effets thérapeutiques
4 EPICIME-CIC 1407 de Lyon, Inserm, Service de Pharmacologie Clinique
5 Centre de Biotechnologie cellulaire
6 Academic Unit of Medical Genetic
7 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
8 ICT - Immunologie et chimie thérapeutiques
9 CeRéMAI - Centre de Référence des Maladies AutoInflammatoires
10 Unité Néphrologie Pédiatrique [CHRU Lille]
11 Hôpital Claude Huriez [Lille]
12 Centre de néphrologie et transplantation rénale [Hôpital de la Conception - APHM]
13 Service de médecine interne [hôpitaux privés de Metz]
14 CHU Montpellier
15 Service de Pédiatrie [Nancy]
16 AP-HP Hôpital universitaire Robert-Debré [Paris]
17 Service Pédiatrique [Rennes]
18 CHU La Réunion - Centre Hospitalier Universitaire de La Réunion
19 Service de Néphrologie Rhumatologie Dermatologie
20 Service de médecine interne [Lille]
21 Service d'immuno-hématologie pédiatrique [CHU Necker]
22 Department of Pathology, Hôpital Femme-Mère-Enfant
23 Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases

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.

Keywords: Genetics; Monogenic lupus; Autoimmunity; Pediatrics; Systemic lupus erythematosus

Domains: Life Sciences [q-bio]; Life Sciences [q-bio]; Immunology

Olivia Weill, Stéphane Decramer, Christophe Malcus, Behrouz Kassai, Isabelle Rouvet, et al.. Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus.. Joint Bone Spine, 2017, pp.589-593. ⟨10.1016/j.jbspin.2016.12.008⟩. ⟨hal-01771410⟩