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4. POS0378 HETEROZYGOUS LOSS-OF-FUNCTION RELA MUTATIONS LEAD TO SYSTEMIC LUPUS ERYTHEMATOSUS OR AUTOINFLAMMATORY SYNDROME

Author

Riller, Q., primary, Barnabei, L., additional, Rodrigo-Riestra, M., additional, Stolzenberg, M. C., additional, Pelle, O., additional, Delage, L., additional, Becquard, T., additional, Courteille, C., additional, Marchais, M., additional, De Cevins, C., additional, Brunaud, C., additional, Magerus, A., additional, Luka, M., additional, Sorin, B., additional, Boussard, C., additional, Salomon, R., additional, Ménager, M., additional, Hié, M., additional, Neven, B., additional, Baud, V., additional, Skokowa, J., additional, Sogkas, G., additional, Jamilloux, Y., additional, Merlin, E., additional, Belot, A., additional, Picard, C., additional, Boursier, G., additional, Riviere, E., additional, Georgin-Lavialle, S., additional, Quartier, P., additional, Bader-Meunier, B., additional, Fischer, A., additional, Miner, J. J., additional, and Rieux-Laucat, F., additional

Published
2024
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10. Refractory Sarcoidosis: A Review

Author

El Jammal T, Jamilloux Y, Gerfaud-Valentin M, Valeyre D, and Sève P

Subjects
refractory sarcoidosis, jak inhibitors, anti-tnf, Therapeutics. Pharmacology, RM1-950
Abstract

Thomas El Jammal,1 Yvan Jamilloux,1 Mathieu Gerfaud-Valentin,1 Dominique Valeyre,2 Pascal Sève1,3 1Department of Internal Medicine, Lyon University Hospital, Lyon, France; 2Department of Pneumology, Assistance Publique - Hôpitaux de Paris, Hôpital Avicenne et Université Paris 13, Sorbonne Paris Cité, Bobigny, France; 3Hospices Civils de Lyon, Pôle IMER, Lyon, F-69003, France, University Claude Bernard Lyon 1, HESPER EA 7425, Lyon F-69008, FranceCorrespondence: Pascal SèveService de Médecine Interne, Groupement Hospitalier Nord, 103 Grande rue de la Croix-Rousse, Lyon F-69004, FranceTel +33 426 732 636Fax +33 426 732 637Email pascal.seve@chu-lyon.frAbstract: Sarcoidosis is a multi-system disease of unknown etiology characterized by granuloma formation in various organs (especially lung and mediastinohilar lymph nodes). In more than half of patients, the disease resolves spontaneously. When indicated, it usually responds to corticosteroids, the first-line treatment, but some patients may not respond or tolerate them. An absence of treatment response is rare and urges for verifying the absence of a diagnosis error, the good adherence of the treatment, the presence of active lesions susceptible to respond since fibrotic lesions are irreversible. That is when second-line treatments, immunosuppressants (methotrexate, leflunomide, azathioprine, mycophenolate mofetil, hydroxychloroquine), should be considered. Methotrexate is the only first-line immunosuppressant validated by a randomized controlled trial. Refractory sarcoidosis is not yet a well-defined condition, but it remains a real challenge for the physicians. Herein, we considered refractory sarcoidosis as a disease in which second-line treatments are not sufficient to achieve satisfying disease control or satisfying corticosteroids tapering. Tumor necrosis alpha inhibitors, third-line treatments, have been validated through randomized controlled trials. There are currently no guidelines or recommendations regarding refractory sarcoidosis. Moreover, criteria defining non-response to treatment need to be clearly specified. The delay to achieve response to organ involvement and drugs also should be defined. In the past ten years, the efficacy of several immunosuppressants beforehand used in other autoimmune or inflammatory diseases was reported in refractory cases series. Among them, anti-CD20 antibodies (rituximab), repository corticotrophin injection, and anti-JAK therapy anti-interleukin-6 receptor monoclonal antibody (tocilizumab) were the main reported. Unfortunately, no clinical trial is available to validate their use in the case of sarcoidosis. Currently, other immunosuppressants such as JAK inhibitors are on trial to assess their efficacy in sarcoidosis. In this review, we propose to summarize the state of the art regarding the use of immunosuppressants and their management in the case of refractory or multidrug-resistant sarcoidosis.Keywords: refractory sarcoidosis, JAK inhibitors, anti-TNF

Published
2020

16. Clinical and pathological features of cutaneous manifestations in VEXAS syndrome: A multicenter retrospective study of 59 cases

Author

Zakine, Ève, primary, Papageorgiou, Loula, additional, Bourguiba, Rim, additional, Mekinian, Arsène, additional, Terrier, Benjamin, additional, Kosmider, Olivier, additional, Hirsch, Pierre, additional, Jachiet, Marie, additional, Audia, Sylvain, additional, Ardois, Samuel, additional, Adélaïde, Léopold, additional, Bigot, Adrien, additional, Duriez, Paul, additional, Emile, Jean-François, additional, Lazaro, Estibaliz, additional, Fayard, Damien, additional, Galland, Joris, additional, Hié, Miguel, additional, Humbert, Sébastien, additional, Jean, Alexis, additional, Kostine, Marie, additional, Lacombe, Valentin, additional, Le Guenno, Guillaume, additional, Lobbes, Hervé, additional, Magy-Bertrand, Nadine, additional, Marianetti-Guingel, Paola, additional, Mathian, Alexis, additional, Outh, Rodérau, additional, Saillard, Clémence, additional, Samson, Maxime, additional, Vial, Guillaume, additional, Bouaziz, Jean-David, additional, Moguelet, Philippe, additional, Chasset, François, additional, Amoura, Z., additional, Aouba, A., additional, Arnaud, C., additional, Audemard-Verger, A., additional, Bachmeyer, C., additional, Bienvenu, B., additional, Biscay, P., additional, Borlot, F., additional, Bouillet, L., additional, Boursier, G., additional, Carrat, F., additional, Cluzeau, T., additional, Comont, T., additional, Constantin, A., additional, de Sainte Marie, B., additional, Deligny, C., additional, Dieval, C., additional, Duroyon, E., additional, Ebbo, M., additional, Fain, O., additional, Faucher, B., additional, Fenaux, P., additional, Georgin-Lavialle, S., additional, Gerfaud-Valentin, M., additional, Graveleau, J., additional, Guedon, A.F., additional, Hanslik, T., additional, Heiblig, M., additional, Jachiet, V., additional, Jamilloux, Y., additional, Jeannel, J., additional, Larue, M., additional, Le Pelletier, F., additional, Liozon, E., additional, Meyer, A., additional, Moulinet, T., additional, Pha, M., additional, Rossignol, J., additional, Roux, M., additional, Roux-Sauvat, M., additional, Sailler, L., additional, Sarrabay, G., additional, Sebert, M., additional, Servettaz, A., additional, Sujobert, P., additional, Terriou, L., additional, Vinit, J., additional, Vinzio, S., additional, Weitten, T., additional, and Zhao, L.P., additional

Published
2023
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20. Comparaison de la tomographie par émission de positons entre maladie de Still et lymphome non hodgkinien

Author

Salvador, B., primary, Lades, G., additional, Parreau, S., additional, Dumonteil, S., additional, Brisset, J., additional, Jamilloux, Y., additional, Gerfaud-Valentin, M., additional, Hot, A., additional, Abraham, J., additional, Jaccard, A., additional, Gondran, G., additional, Liozon, E., additional, Fauchais, A.L., additional, Monteil, J., additional, and Ly, K.H., additional

Published
2022
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21. Inflammation oculaire induite par les inhibiteurs du checkpoint immunitaire

Author

Chaudot, F., primary, Sève, P., additional, Rousseau, A., additional, Alexandre, M., additional, Fournie, P., additional, Lozac’h, P., additional, Keraen, J., additional, Servant, M., additional, Muller, R., additional, Gramont, B., additional, Touhami, S., additional, Mahmoud, H., additional, Quintart, P.A., additional, Dalle, S., additional, Lambotte, O., additional, Kodjikian, L., additional, and Jamilloux, Y., additional

Published
2022
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26. Signification clinique des gammapathies monoclonales au cours du syndrome VEXAS

Author

Stammler, R., Georgin-Lavialle, S., Terrier, B., Comont, T., Heiblig, M., Decker, P., Bouillet, L., Guédon, A.F., Bourguiba, R., Audemard-Verger, A., Hirsch, P., Fain, O., Servettaz, A., Lacombe, V., Terriou, L., Ardois, S., Bouaziz, J.D., Mathian, A., Le Guenno, G., Aouba, A., Outh, R., Meyer, A., Ebbo, M., Zhao, L.P., Bigot, A., Jamilloux, Y., Guillotin, V., Jachiet, V., Samson, M., Sujobert, P., Fenaux, P., Kosmider, O., Mekinian, A., Harel, S., and Moulinet, T.

Published
2024
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27. Un registre de 1092 patients atteints de myopathies inflammatoires : un atout précieux pour la recherche clinique et translationnelle

Author

Gallay, L., Lessard, L., Maucort-Boulch, D., Fabien, N., Hot, A., Schaeffer, L., Bouhour, F., Svahn, J., Pegat, A., Petiot, P., Coutant, F., Belot, A., Durieu, I., Reynaud, Q., Sève, P., Jamilloux, Y., Cottin, V., Traclet, J., Ahmad, K., Fouillet-Desjonqueres, M., Rouvet, I., Fenouil, T., and Streichenberger, N.

Published
2024
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28. Treatment of adult-onset Still’s disease: a review

Author

Jamilloux Y, Gerfaud-Valentin M, Henry T, and Sève P

Subjects
Therapeutics. Pharmacology, RM1-950
Abstract

Yvan Jamilloux,1–3,* Mathieu Gerfaud-Valentin,1,* Thomas Henry,3 Pascal Sève1 1Department of Internal Medicine, Hôpital de la Croix-Rousse, Université Claude Bernard-Lyon 1, Lyon, France; 2Department of Biochemistry, University of Lausanne, Epalinges, Switzerland; 3International Research Center on Infectiology. INSERM U1111. Université Claude Bernard-Lyon 1, Lyon, France *These authors contributed equally to this work Abstract: Adult-onset Still’s disease (AOSD) is a rare inflammatory disorder that has been recently classified as a polygenic autoinflammatory disorder. The former classification, based on the disease course, seems to be quite dated. Indeed, there is accumulating evidence that AOSD can be divided into two distinct phenotypes based on cytokine profile, clinical presentation, and outcome, ie, a “systemic” pattern and an “articular” pattern. The first part of this review deals with the treatments that are currently available for AOSD. We then present the different strategies based on the characteristics of the disease according to clinical presentation. To do so, we focus on the two subsets of the disease. Finally, we discuss the management of life-threatening complications of AOSD, along with the therapeutic options during pregnancy. Keywords: adult-onset Still’s disease, treatment, anakinra, tocilizumab, canakinumab

Published
2014

29. Pleuropulmonary manifestations of VEXAS syndrome

Author

Borie, R, primary, Debray, M P, additional, Audemard, A, additional, Guedon, A, additional, Terriou, L, additional, Lacombe, V, additional, Lazaro, E, additional, Meyer, A, additional, Mathian, A, additional, Ardois, S, additional, Vial, G, additional, Moulinet, T, additional, Terrier, B, additional, Jamilloux, Y, additional, Heblig, M, additional, Bouaziz, J D, additional, Zakine, E, additional, Outh, R, additional, Groslerons, S, additional, Bigot, A, additional, Flamarion, E, additional, Kostine, M, additional, Henneton, P, additional, Humbert, S, additional, Constentin, A, additional, Samson, M, additional, Magy, N, additional, Dieval, C, additional, Biscay, P, additional, Lobbes, H, additional, Meghit, K, additional, Servettaz, A, additional, Adelaide, L, additional, Graveleau, J, additional, De Sainte Marie, B, additional, Guillotin, V, additional, Galland, J, additional, Kostminder, O, additional, Georgin Lavaille, S, additional, and Mekinian, A, additional

Published
2022
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30. Un diagnostic qui recoiffe

Author

Baverez, C., primary, Richard, M., additional, Gerfaud Valentin, M., additional, Jamilloux, Y., additional, Seve, P., additional, and Aslangul, E., additional

Published
2022
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34. Uvéites et grossesse : une étude rétrospective bicentrique

Author

Giorgiutti, S., primary, Gerfaud-Valentin, M., additional, Jamilloux, Y., additional, Bert, A., additional, Weber, E., additional, Richard-Colmant, G., additional, Krencker, D., additional, Ballonzoli, L., additional, Kodjikian, L., additional, Korganow, A.S., additional, Poindron, V., additional, and Sève, P., additional

Published
2022
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38. Détection et prédiction du syndrome d’activation macrophagique dans la maladie de Still : étude rétrospective de 20 cas

Author

Javaux, C., primary, El-Jamal, T., additional, Neau, P.A., additional, Fournier, N., additional, Gerfaud-Valentin, M., additional, Pérard, L., additional, Fouillet-Desjonqueres, M., additional, Le Scanff, J., additional, Vignot, E., additional, Durupt, S., additional, Hot, A., additional, Belot, A., additional, Durieu, I., additional, Henri, T., additional, Sève, P., additional, and Jamilloux, Y., additional

Published
2021
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42. Devenir cardiovasculaire à long terme dans la maladie de Kawasaki de l’adulte

Author

Peter, E., primary, Jean-Baptiste, F., additional, Harbaoui, B., additional, Kone-Paut, I., additional, Dauphin, C., additional, Gomard-Mennesson, E., additional, Hervier, B., additional, De Boysson, H., additional, Varron, L., additional, Pugnet, G., additional, Gobert, D., additional, Bachmeyer, C., additional, Humbert, S., additional, Roblot, P., additional, Cathébras, P., additional, Gerfaud-Valentin, M., additional, Weber, E., additional, Jamilloux, Y., additional, Fain, O., additional, and Sève, P., additional

Published
2021
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45. Relevance of Brain MRI in Patients with Uveitis: Retrospective Cohort on 402 Patients.

Author

Chirpaz, N. , MD, Kerever, S., MD, PhD, Gavoille, A., MD, Kodjikian, L., MD, PhD, Bernier, R., MD, Gerfaud-Valentin, M., MD, Denis, P., MD, PhD, Mathis, T., MD, PhD, Jamilloux, Y., MD, PhD, and Sève, P., MD, PhD

Subjects
BLOOD cell count, UVEITIS, MAGNETIC resonance imaging, ANGIOTENSIN converting enzyme, IRIDOCYCLITIS, COMPUTED tomography
Abstract

To assess the diagnostic value of brain magnetic resonance imaging (bMRI) for the etiological diagnosis of uveitis and to establish predictive factors associated with its advantageous use. Retrospective study on all patients with de novo uveitis who were referred to our tertiary hospital and who underwent a bMRI between 2003 and 2018. bMRI was contributive in 19 out of 402 cases (5%), among patients with a contributive bMRI, 68% had neurological signs. Univariate analysis established that neurological signs (p <.001), granulomatous uveitis (p =.003), retinal vasculitis (p =.002), and intermediate uveitis (p <.001) were all significantly associated with a contributive bMRI. Multivariate analysis confirms the significant association of neurological signs (p <.001) and intermediate uveitis (p =.01). bMRI appears to be a relevant exam in specific cases; intermediate/posterior uveitis or panuveitis accompanied by neurological signs, retinal vasculitis, or in patients older than 40, to rule out an oculocerebral lymphoma. ACE: Angiotensin-Converting Enzyme; bMRI: Magnetic Resonance Imaging; CBC: Complete Blood cell Count; BMRI: Brain Magnetic Resonance Imaging; CT: Computerized Tomography; MS: Multiple Sclerosis; NS: Neurological Signs; OCL: Oculocerebral Lymphoma; RIS: Radiologically Isolated Syndrome [ABSTRACT FROM AUTHOR]

Published
2022
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47. Effet du rituximab en préconceptionnel chez une patiente ayant des anticorps anti-récepteur de la TSH persistants à taux très élevés et fortement stimulants, à très haut risque d’hyperthyroïdie transplacentaire

Author

Gug, L., Jamilloux, Y., Lasolle, H., Raverot, V., Borson-Chazot, F., Seve, P., Massardier, J., and Abeillon Du Payrat, J.

Abstract

La persistance d’anticorps anti-récepteur de la TSH (TRAb) élevés chez la mère pendant la grossesse malgré un traitement radical expose le fœtus puis le nouveau-né au risque d’hyperthyroïdie transplacentaire. Nous rapportons le cas d’une femme de 42 ans traitée pour une maladie de Basedow par thyroïdectomie totale avec persistance de TRAb très élevés (240 UI/L (< 1,75 UI/L)) responsables, après deux fausses couches spontanées, d’une hyperthyroïdie fœtale précoce et fatale malgré un traitement agressif à l’occasion d’une précédente grossesse. Les TRAb restant à 85 fois la limite supérieure (149 UI/L) avec une activité stimulante majeure à 818 % (< 140 %) ; un traitement préconceptionnel par RITUXIMAB 500mg IV (Anticorps monoclonal antiCD20) a été décidé collégialement. À 2 mois les TRAb étaient à 122 UI/L puis, pendant la grossesse débutée 5 mois après le traitement à : T1 93 UI/L, T2 70 UI/L, T3 64 UI/L. L’activité stimulante a peu évolué de 818 % à 882 % à T3. Un goitre fœtal avec signes d’hyperthyroïdie fœtale a été observé à 21 SA nécessitant un traitement antithyroïdien à visée fœtale jusqu’au déclenchement à 37 SA. Une hyperthyroïdie néonatale avec TRAb à 35 UI/L a nécessité un traitement de 2 mois chez le nouveau-né par ailleurs en bonne santé. Le Rituximab est un traitement validé de l’orbitopathie basedowienne, des données récentes en suggèrent l’intérêt sur la réduction des récidives de l’hyperthyroïdie. Nous présentons un cas de décroissance de TRAb dans les suites d’un traitement par Rituximab en préconceptionnel avec naissance d’un enfant à terme en hyperthyroïdie néonatale transitoire.

Published
2024
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