Manifestations auto-immunes associées aux syndromes myélodysplasiques : description d'une cohorte régionale et revue de la littérature

Introduction : les manifestations auto-immunes (MAI) associées aux syndromes myélodysplasiques (SMD) concernent 10 à 28% des patients. Les liens physiopathologiques restent cependant mal compris, et l’impact de cette association sur l’évolution de chacune des deux maladies et sur la survie est controversé.Objectif : l’objectif est de décrire les caractéristiques des patients présentant des MAI associées aux SMD (SMD/MAI+) et d’évaluer l’impact sur la survie.Matériel et méthodes : nous avons recueilli rétrospectivement les données clinico-biologiques des patients SMD/MAI+ pris en charge dans deux centres régionaux (médecine interne et onco-hématologie). Les critères d’inclusion étaient : diagnostic de SMD ou LMMC selon les classifications OMS 2016 ou précédentes entre 2004 et avril 2016, présence de manifestations auto-immunes. Les patients ayant reçu auparavant un traitement immunosuppresseur étaient exclus. Le groupe contrôle (SMD/MAI-) était constitué de 127 patients suivis en onco-hématologie pour un SMD diagnostiqué entre 2001 et 2013.Résultats : 801 patients présentant un SMD ont été analysés. 89 d’entre eux ont présenté une MAI au cours du suivi soit 11% des patients : 57.3% d’hommes, d’âge moyen 68.9 +/- 1.2 ans ; le SMD est de type SMD-MLD (23.6%), LMMC-1 (21.3%) et SMD-EB-1 (19.1%). 80% sont de bas risque selon le score IPSS. 25% présentent un rhumatisme inflammatoire, 17% des cytopénies ou troubles de l’hémostase, 12% des dermatoses ou vascularites, 7% des polychondrites atrophiantes. 86% des patients répondent à une corticothérapie systémique, 69% sont cortico-dépendants. Aucune association entre MAI et type de SMD n’est observée (p=0.4), ni avec le caryotype. La survie est meilleure pour les patients SMD/MAI+ : 10.3 ans +/- 0.6 (IC95% 6.2-12.9) versus 4.8 ans +/- 1.1 (IC95% 4.2-8.7), p=0.04. La survie sans transformation en LAM n’est pas différente : 10.7 ans +/- 0.3 (IC95%8.2-NR) versus 8.7 ans (IC95%4.8-NR), p=0.39. La survie des patients est meilleure lorsque la MAI est diagnostiquée plus d’un an après le SMD : 21.1 ans +/- 2.6 (IC95%5.4-NR) versus 10.3 ans +/- 1.4 (IC95%5.7-11.1) si le diagnostic est concomitant, versus 6.2 ans +/-1.5 (IC95%2.3-NR) si le diagnostic de MAI est antérieur à celui de SMD, p=0.04.Conclusion : l’association SMD/MAI est fréquente et d’expression très hétérogène. Les patients SMD/MAI+ pourraient avoir une meilleure survie que les SMD/MAI-. La prise en charge thérapeutique de ces patients reste complexe

Life-threatening autoimmune warm hemolytic anemia following treatment for multiple sclerosis with alemtuzumab

International audienceBackground: Alemtuzumab is a humanized monoclonal antibody directed at CD52 approved as a disease-modifying therapy for relapsing forms of multiple sclerosis (MS). Objective: To describe a case of a life-threatening autoimmune anemia occurring after a first course of alemtuzumab for relapsing-remitting MS in a 28-year-old male. Methods: Case report. Results: A 28-year-old male developed a life-threatening autoimmune anemia occurring 11 months after first alemtuzumab course. Conclusion: We report the third case of autoimmune hemolytic anemia following treatment with alemtuzumab in a young MS patient. Due to the severity of this adverse event, neurologists using this treatment should be alert

Unexpected Association between Health-Related Quality of Life and the Blood Interferon Modular Transcriptional Signatures in Patients with Systemic Lupus Erythematosus

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Pathophysiology of IgG4-related disease: A T follicular helper cells disease?

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Intravenous immunoglobulin in patients with acquired Von Willebrand syndrome: A single referral centre experience

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Paradoxical association between blood modular interferon signatures and quality of life in patients with systemic lupus erythematosus

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Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency

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Nailfold videocapillaroscopy alterations in dermatomyositis, antisynthetase syndrome, overlap myositis, and immune-mediated necrotizing myopathy

International audienceIntroduction/objectives The aim of our study was to investigate possible differences in nailfold videocapillaroscopy (NVC) features between patients with dermatomyositis (DM), overlap myositis (OM), antisynthetase syndrome (ASS), and immune-mediated necrotizing myopathy (IMNM). Methods We performed a cross-sectional monocentric study. All patients with inflammatory myopathies (IMs) over a 6-month period were analyzed by NVC for giant and ramified capillaries, tortuosities, capillary density, disorganization, and scleroderma pattern. Clinical, biological, and pathological characteristics were retrospectively recorded. Patients were classified as having DM, OM, ASS, or IMNM for comparison. Patients were also compared with a group of patients with systemic sclerosis (SSc). Results NVC was analyzed in DM (n = 17), OM (n = 8), ASS (n = 12), and IMNM (n = 6). Vascular disorganization and avascular zones were observed only in DM (11.8%) and OM (62.5%). The percentage of patients with giant capillaries was higher in OM (n = 4/8) than in DM (n = 3/17) and absent in ASS and IMNM. Frequency of ramified capillaries, tortuosities, hemorrhages, or thrombosis was not different between subgroups. A scleroderma pattern was only observed in OM patients. Conclusion In this limited series of patients, we observed that DM and OM NVC abnormalities are different from ASS and IMNM. We could not determine NVC specific patterns associated with myositis-specific antibody subtypes of DM because of the small number of patients

Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with<i>EPHB4</i>pathogenic variants

Background EPHB4 loss of function is associated with type 2 capillary malformation–arteriovenous malformation syndrome, an autosomal dominant vascular disorder. The phenotype partially overlaps with hereditary haemorrhagic telangiectasia (HHT) due to epistaxis, telangiectases and cerebral arteriovenous malformations, but a similar liver involvement has never been described. Methods Members of the French HHT network reported their cases of EPHB4 mutation identified after an initial suspicion of HHT. Clinical, radiological and genetic characteristics were analysed. Results Among 21 patients with EPHB4, 15 had a liver imaging, including 7 with HHT-like abnormalities (2 female patients and 5 male patients, ages 43–69 years). Atypical epistaxis and telangiectases were noted in two cases each. They were significantly older than the eight patients with normal imaging (median: 51 vs 20 years, p<0.0006). The main hepatic artery was dilated in all the cases (diameter: 8–11 mm). Six patients had hepatic telangiectases. All kind of shunts were described (arteriosystemic: five patients, arterioportal: two patients, portosystemic: three patients). The overall liver appearance was considered as typical of HHT in six cases. Six EPHB4 variants were classified as pathogenic and one as likely pathogenic, with no specific hot spot

Tocilizumab versus anakinra in COVID-19: results from propensity score matching

International audienceBackground Tocilizumab and anakinra are anti-interleukin drugs to treat severe coronavirus disease 2019 (COVID-19) refractory to corticosteroids. However, no studies compared the efficacy of tocilizumab versus anakinra to guide the choice of the therapy in clinical practice. We aimed to compare the outcomes of COVID-19 patients treated with tocilizumab or anakinra. Methods Our retrospective study was conducted in three French university hospitals between February 2021 and February 2022 and included all the consecutive hospitalized patients with a laboratory-confirmed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection assessed by RT-PCR who were treated with tocilizumab or anakinra. A propensity score matching was performed to minimize confounding effects due to the non-random allocation. Results Among 235 patients (mean age, 72 years; 60.9% of male patients), the 28-day mortality (29.4% vs. 31.2%, p = 0.76), the in-hospital mortality (31.7% vs. 33.0%, p = 0.83), the high-flow oxygen requirement (17.5% vs. 18.3%, p = 0.86), the intensive care unit admission rate (30.8% vs. 22.2%, p = 0.30), and the mechanical ventilation rate (15.4% vs. 11.1%, p = 0.50) were similar in patients receiving tocilizumab and those receiving anakinra. After propensity score matching, the 28-day mortality (29.1% vs. 30.4%, p = 1) and the rate of high-flow oxygen requirement (10.1% vs. 21.5%, p = 0.081) did not differ between patients receiving tocilizumab or anakinra. Secondary infection rates were similar between the tocilizumab and anakinra groups (6.3% vs. 9.2%, p = 0.44). Conclusion Our study showed comparable efficacy and safety profiles of tocilizumab and anakinra to treat severe COVID-19