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A new autoinflammatory syndrome related to somatic mutations of UBA1 was recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome').To describe clinical characteristics, laboratory findings and outcomes of VEXAS syndrome.One hundred and sixteen patients with VEXAS syndrome were referred to a French multicentre registry between November 2020 and May 2021. The frequency and median of parameters and vital status, from diagnosis to the end of the follow-up, were recorded.The main clinical features of VEXAS syndrome were found to be skin lesions (83%), noninfectious fever (64%), weight loss (62%), lung involvement (50%), ocular symptoms (39%), relapsing chondritis (36%), venous thrombosis (35%), lymph nodes (34%) and arthralgia (27%). Haematological disease was present in 58 cases (50%): myelodysplastic syndrome (MDS; n = 58) and monoclonal gammopathy of unknown significance (n = 12; all patients with MGUS also have a MDS). UBA1 mutations included p.M41T (45%), p.M41V (30%), p.M41L (18%) and splice mutations (7%). After a median follow-up of 3 years, 18 patients died (15·5%; nine of infection and three due to MDS progression). Unsupervised analysis identified three clusters: cluster 1 (47%; mild-to-moderate disease); cluster 2 (16%; underlying MDS and higher mortality rates); and cluster 3 (37%; constitutional manifestations, higher C-reactive protein levels and less frequent chondritis). The 5-year probability of survival was 84·2% in cluster 1, 50·5% in cluster 2 and 89·6% in cluster 3. The UBA1 p.Met41Leu mutation was associated with a better prognosis.VEXAS syndrome has a large spectrum of organ manifestations and shows different clinical and prognostic profiles. It also raises a potential impact of the identified UBA1 mutation.

Resume Le syndrome de renutrition inappropriee (SRI), mal connu et souvent sous-diagnostique, est une pathologie rare, mais severe, pouvant entrainer le deces. Il survient dans les 5 jours apres renutrition chez des patients apres un jeune prolonge ou dans un contexte de denutrition. Consequence du passage brutal du catabolisme a l’anabolisme, le SRI peut se definir par une diminution des taux plasmatiques de phosphore, de potassium et/ou de magnesium associee ou non a un dysfonctionnement d’organe resultant d’une diminution de l’un des electrolytes ou d’une carence en thiamine, apres renutrition. Les symptomes cliniques, varies et aspecifiques, sont lies aux troubles hydroelectrolytiques, a une retention hydrosodee ou a une defaillance d’un ou plusieurs organes. La prise en charge des patients doit etre rapide avec un examen clinique regulier, une surveillance biologique attentive, notamment hydroelectrolytique. La correction des troubles hydroelectrolytiques et la supplementation systematique en thiamine sont indispensables lors de la renutrition qui doit etre prudente et progressive quelle que soit sa forme (orale, enterale ou parenterale). La gravite du syndrome de renutrition inappropriee fait que sa prevention et son depistage sont les points principaux de sa prise en charge chez les patients a risque.

International audience; Refeeding syndrome (RS) is a rare but severe condition that is poorly understood, often under-diagnosed and can lead to death. It occurs within 5 days after refeeding in patients after prolonged fasting or in a context of undernutrition. As a consequence of the abrupt transition from catabolism to anabolism, RS is defined as a decrease in plasma levels of phosphorus, potassium and/or magnesium, whether or not associated with organ dysfunction resulting from a decrease in one of the electrolytes or a thiamine deficiency, after refeeding. The clinical symptoms are varied and non-specific and are related to hydro electrolyte disorders, sodium-hydroxide retention or failure of one or more organs. Patient management should be appropriate with regular clinical examination and careful biological monitoring, including hydro electrolyte monitoring. The correction of hydroelectrolytic disorders and systematic thiamine supplementation are essential during refeeding, that must be done carefully and very progressively, whatever its form (oral, enteral or parenteral). The severity of the refeeding syndrome indicates that its prevention and screening are the corners of its management in at-risk patients.; Le syndrome de renutrition inappropriée (SRI), mal connu et souvent sous-diagnostiqué, est une pathologie rare, mais sévère, pouvant entraîner le décès. Il survient dans les 5 jours après renutrition chez des patients après un jeûne prolongé ou dans un contexte de dénutrition. Conséquence du passage brutal du catabolisme à l’anabolisme, le SRI peut se définir par une diminution des taux plasmatiques de phosphore, de potassium et/ou de magnésium associée ou non à un dysfonctionnement d’organe résultant d’une diminution de l’un des électrolytes ou d’une carence en thiamine, après renutrition. Les symptômes cliniques, variés et aspécifiques, sont liés aux troubles hydroélectrolytiques, à une rétention hydrosodée ou à une défaillance d’un ou plusieurs organes. La prise en charge des patients doit être rapide avec un examen clinique régulier, une surveillance biologique attentive, notamment hydroélectrolytique. La correction des troubles hydroélectrolytiques et la supplémentation systématique en thiamine sont indispensables lors de la renutrition qui doit être prudente et progressive quelle que soit sa forme (orale, entérale ou parentérale). La gravité du syndrome de renutrition inappropriée fait que sa prévention et son dépistage sont les points principaux de sa prise en charge chez les patients à risque.

BackgroundGiant cell arteritis (GCA) is a large-vessel vasculitis mainly involving the aorta and cranial arteries. It is the most frequent vasculitis in adults over 50 years. When they are stimulated by interferon-gamma (IFN-γ), vascular smooth muscle cells (VSMC) contribute to GCA pathogenesis by producing chemokines triggering the recruitment of pro-inflammatory T cells and monocytes (1).ObjectivesCurrent knowledge about the interaction between resident cells of the vascular wall (VSMC, myofibroblasts [MF]) and immune cells is limited. The aim of our research was to better characterize the interactions between VSMC, MF and T cells in GCA.MethodsFresh fragments of temporal artery biopsies (TAB) performed at Dijon university hospital (France) were prospectively sent to our research unit. Fresh sections of positive and negative TAB were fixed and embedded in optimal cutting temperature OCT and stored at -80°C. Then, cryostat sections were fixed, permeabilized, blocked and incubated with primary antibodies (anti-alpha smooth muscle actin [α-SMA], anti-myosin heavy chain 11 [MHC11], anti-Desmin, anti CD90, anti-CD45, anti-HLA-DR, anti-phospho STAT1 [pSTAT1] and anti-pSTAT3) and secondary antibodies for confocal microscopy analyses. Fresh sections of healthy TAB were embedded in MATRIGEL and covered by DMEM to obtain vascular cells in culture. Cells were treated with trypsina-EDTA between each passage. Vascular cells were used after 4-7 doubling passages. Cells were analyzed by immunofluorescence, flow cytometry and RT-PCR and their proliferation was evaluated by impedancemetry (iCELLigence system). Peripheral blood mononuclear cells (PBMC) and vascular cells thus obtained were co-cultured for 7 days in different conditions. Vascular cells were cultured in the presence or absence of IFN-γ and tumor necrosis factor alpha (TNF-α) or interleukin-6 (IL-6) and soluble receptor of IL-6 for 72 hours. When cells reached confluence, they were cultured alone or with allogenic PBMC activated with anti-CD3/CD28 microbeads. After 7 days of culture, cells were separated with a treatment with EDTA and studied by flow cytometry.ResultsConfocal microscopy analyses of GCA arteries showed that neointima was mainly composed of myofibroblasts (MF) (α-SMA+Desmin+MHC11lowCD90+) in contact with CD45+ cells and that MF expressed HLA-DR, the phosphorylated form of STAT1 (pSTAT1) and in a lesser extent pSTAT3, strongly suggesting the activation of the IFN-γ signaling pathway rather than the IL-6 pathway. The phenotype of cultured vascular cells isolated from fresh TAB was consistent with MF. When MF were exposed to IFN-γ and TNF-α in vitro, their proliferation capacity decreased and their levels of expression of HLA-DR and CD86 increased (median fluorescence intensity [MFI] from 0 to 57 [p=0.03] and from 34 to 103 [p=0.03], respectively). In addition, co-cultures of MF and activated PBMC revealed that MF maintained the polarization of T cells into Th1 and Tc1 cells (p≤0.001) and to a lesser extent into Th17 and Tc17 cells (p=0.03). This effect was even more significant when MF were previously exposed to IFN-γ and TNF-α but not when they were exposed to IL-6.ConclusionOur results show that myofibroblasts are present in the neointima of GCA patients and that these MF activate signaling pathways indicative of IFN-γ exposure. Moreover, these MF, especially when exposed to IFN-γ, maintain the polarization of T cells into Th1 and Tc1 cells, which contributes to amplify the production of IFN-γ and thus initiate a pro-inflammatory amplification loop that likely participates in vascular inflammation and remodelling.References[1]Corbera-Bellalta M, Planas-Rigol E, Lozano E, Terrades-Garcia N, Alba MA, Prieto-Gonzalez S, et al. Blocking interferon gamma reduces expression of chemokines CXCL9, CXCL10 and CXCL11 and decreases macrophage infiltration in ex vivo cultured arteries from patients with giant cell arteritis. Ann Rheum Dis 2016;75:1177-86.Disclosure of InterestsNone declared

Transthyretin (TTR) cardiac amyloidosis results from the dissociation of the tetrameric, liver-synthetized transport protein, either because of a mutation (hereditary CA), or spontaneously due to ageing (wild type CA). Monomers self-associate into amyloid fibrils within the myocardium, causing heart failure, arrhythmias and conduction defects. This overlooked disease must be recognized in case of unexplained increased thickness of the myocardium, particularly in subjects of African descent, in patients with heart failure and preserved ejection fraction, and in those with aortic stenosis. Some extra-cardiac symptoms must also be considered as red flags: carpal tunnel syndrome, lumbar canal stenosis, recent deafness, peripheral neuropathy, or dysautonomia. Medical assessment includes an electrocardiogram, biological assessment including troponin, natriuretic peptide and monoclonal protein assay, echocardiography with 2-D strain study, MRI and bone scintigraphy. Once the diagnosis established, cardiologic management must avoid beta-blockers and other rate-slowing drugs, which are deleterious in restrictive cardiomyopathy, and restrain the use of renin-angiotensin system inhibitors, of little use and often poorly tolerated. Congestion must be treated with diuretics. Anticoagulants are often necessary due to the risk of arrhythmias and stroke. Pacemaker or defibrillator implantation should be determined in patients with high risk of sudden death. Until now, etiologic treatments were liver and/or heart transplantation in some rare cases. Tafamidis, a TTR stabilizer has recently been approved, and new therapeutic approaches targeting TTR at the transcriptional level are under investigation.

Multirefractory immune thrombocytopenia (ITP) is defined by the absence of response to TPO receptor agonists, rituximab and splenectomy (or contraindicated or refused) and the need of treatment. The approach to multirefractory ITP must be systematic and firstly involves reconsidering the diagnosis. Inherited thrombocytopenia, lymphoid hemopathies and myelodysplastic syndrome are the main causes to be mentioned. Multirefractory ITP is often associated with secondary ITP with signs of clinical or biological autoimmunity, monoclonal gammopathy of undetermined significance and a poor response to corticosteroids. Therapeutic management is complex and is based on the combination of treatments. New treatments are being developed.

Immune thrombocytopenia (ITP) is a rare autoimmune disease due to an immune peripheral destruction of platelets and an inappropriate platelet production. The pathogenesis of ITP is now better understood: it involves a humoral immune response which dependents on the stimulation of B cells by specific T cells called T follicular helper cells, leading to their differentiation into plasma cells that produce antiplatelet antibodies thus promoting the phagocytosis of platelets mainly by splenic macrophages. The deciphering of ITP pathogenesis has led to a better understanding of the inefficiency of treatments such as rituximab, although it has not provided yet the determination of biological predictive factor of response to treatments. Moreover, new therapeutic perspectives have been opened in the last few years with the development of molecules targeting Fcγ receptor signalling such as Syk inhibitor, or molecules increasing the clearance of pathogenic autoantibodies such as inhibitors of the neonatal Fc receptor (FcRn).

Transthyretin (TTR) cardiac amyloidosis results from the dissociation of the tetrameric, liver-synthetized transport protein, either because of a mutation (hereditary CA), or spontaneously due to ageing (wild type CA). Monomers self-associate into amyloid fibrils within the myocardium, causing heart failure, arrhythmias and conduction defects. This overlooked disease must be recognized in case of unexplained increased thickness of the myocardium, particularly in subjects of African descent, in patients with heart failure and preserved ejection fraction, and in those with aortic stenosis. Some extra-cardiac symptoms must also be considered as red flags: carpal tunnel syndrome, lumbar canal stenosis, recent deafness, peripheral neuropathy, or dysautonomia. Medical assessment includes an electrocardiogram, biological assessment including troponin, natriuretic peptide and monoclonal protein assay, echocardiography with 2-D strain study, MRI and bone scintigraphy. Once the diagnosis established, cardiologic management must avoid beta-blockers and other rate-slowing drugs, which are deleterious in restrictive cardiomyopathy, and restrain the use of renin-angiotensin system inhibitors, of little use and often poorly tolerated. Congestion must be treated with diuretics. Anticoagulants are often necessary due to the risk of arrhythmias and stroke. Pacemaker or defibrillator implantation should be determined in patients with high risk of sudden death. Until now, etiologic treatments were liver and/or heart transplantation in some rare cases. Tafamidis, a TTR stabilizer has recently been approved, and new therapeutic approaches targeting TTR at the transcriptional level are under investigation.

Introduction La pneumocystose pulmonaire (PJP) est une complication rare mais grave des maladies auto-immunes (MAI). Nous avons realise une etude pour en detailler les manifestations cliniques, biologiques, radiologiques et modalites therapeutiques et identifier des facteurs pronostiques. Materiels et methodes Etude monocentrique retrospective observationnelle realisee a partir de l’identification microbiologique des cas puis analyse des dossiers medicaux pour identification d’une MAI sans restriction diagnostique et confirmation de la PJP. Les patients avec une serologie VIH positive etaient exclus. Resultats Quarante et un patients furent inclus entre le 01/01/2009 et le 31/06/2019. La dyspnee etait constante, au contraire de la fievre (70 % soit 29/41) et de la toux (55 % soit 22/41). Le verre depoli etait decrit dans 64,1 % (24/41) des cas, un autre type de syndrome interstitiel etait observe dans 51,4 % (19/41). Si 75,6 % (31/41) des patients etaient sous corticoides au moment du diagnostic avec une duree mediane de traitement de 93 (extremes 1–1716) semaines, 70,1 % (22/31) avaient une posologie superieure a 20 mg/j. Un autre immunosuppresseur, principalement le methotrexate, etait utilise dans 82,5 % (33/41) des cas. Le nadir median de lymphocytes etait de 400 (extremes 0–2690)/mm3. Un transfert en unite intensive et reanimation etait necessaire dans 52,5 % (21/41) des cas, avec une mortalite a 3 mois de 30 % (12/41). En analyse univariee l’âge, une insuffisance renale chronique preexistante, le nadir de lymphocytes, le score SOFA, l’hospitalisation en reanimation, la necessite d’une intubation et un ratio PaO2/FiO2 bas etaient associes a la mortalite a j28, sans que ces facteurs ne ressortent en analyse multivariee, en dehors de la lymphopenie. Conclusion La lymphopenie semble etre un facteur pronostique de deces precoce. La gravite d’une telle complication induit la necessite d’une prophylaxie, dont l’indication se discute en fonction des MAI et facteurs de risque de survenue identifies.

Resume Introduction La thrombose veineuse portale et/ou splenique (TVSP) survient dans 5–55 % des splenectomies. Elle comporte un risque d’ischemie mesenterique veineuse et d’hypertension portale. Dans la mesure ou le traitement medical est efficace, un diagnostic precoce semble important afin d’eviter des complications parfois irreversibles. Il n’y a pas de consensus concernant l’interet et les modalites d’un depistage eventuel et la prise en charge de la TVSP. Nous avons mis en place un protocole systematique de depistage des TVSP apres splenectomie elective depuis janvier 2012. Le but de ce travail est d’evaluer les resultats de ce depistage systematique. Patients et methodes Depuis janvier 2012, tous les patients ayant eu une splenectomie programmee ont eu un depistage de TVSP par imagerie a j7. Les donnees demographiques, les indications operatoires, le type d’intervention, les chiffres de plaquettes pre- et postoperatoires, les complications, les resultats de l’imagerie et les modalites de prise en charge des TVSP ainsi que le resultat du traitement ont ete colliges. Resultats Sur une periode de 3 ans, 52 patients ont eu une splenectomie totale elective. Tous ont eu un scanner injecte au 7e jour postoperatoire (j7). Onze TVSP (21,2 %) ont ete diagnostiquees. Aucun patient n’etait symptomatique au moment du diagnostic. En analyse univariee, les facteurs associes a la survenue d’une TVSP etaient un diagnostic de lymphome et la splenomegalie. Un traitement anticoagulant curatif etait debute des le diagnostic. Aucune TVSP ne s’est compliquee d’ischemie mesenterique ou d’hypertension portale. Le traitement s’est avere efficace chez tous les patients avec disparition du thrombus a l’imagerie de controle. Conclusion Le depistage systematique de la TVSP apres splenectomie permet de debuter rapidement un traitement efficace et d’eviter ses potentielles complications. Le risque de TVSP est plus eleve en cas de splenectomie pour lymphome ou de splenomegalie.

Portal and/or splenic vein thrombosis (PSVT) is common after splenectomy. It can be a life-threatening complication, with a risk of bowel ischemia and portal hypertension. An early diagnosis allows an effective medical treatment and prevents life-threatening complications. There is no consensus regarding the benefit of systematic screening of patients after splenectomy for PSVT. We started in January 2012 a routine screening of PSVT after elective splenectomy. The aim of this study was to assess this policy.Since January 2012, all patients undergoing an elective splenectomy had an abdominal CT-scan on postoperative-day 7. Demographic data, pathology, type of surgery, platelet counts before and after surgery, outcome, results of medical imaging, and management of PSVT and its results were recorded.Over 3 years, 52 patients underwent an elective splenectomy. All of them had a CT-scan at postoperative-day 7. A PSVT was found in 11 patients (21.2 %). They were all asymptomatic. Lymphoma and splenomegaly were the main factors associated with PSVT in the univariate analysis. All patients with PSVT were treated with anticoagulation and no complication of PSVT occurred. The follow-up CT confirmed the efficacy of anticoagulation therapy in all patients.Routine screening of PSVT after elective splenectomy is warranted because it allows to start anticoagulant therapy and avoid further life-threatening complications. The incidence of PSVT is particularly high among patients operated on for lymphoma or with splenomegaly.

Resume Introduction La polychondrite atrophiante est une maladie rare et grave caracterisee par une atteinte inflammatoire et multifocale des cartilages. Le diagnostic bien qu’urgent est difficile lorsque l’atteinte tracheobronchique est isolee. Observation Nous rapportons le cas d’une femme de 55 ans aux antecedents recents d’episodes febriles non infectieux accompagnes d’un syndrome inflammatoire biologique et corticosensibles. L’auscultation, les explorations fonctionnelles respiratoires et le scanner thoracique evoquaient la presence d’une tracheobronchomalacie. Une polychondrite atrophiante etait suspectee sans pouvoir etre confirmee sur le plan histologique et biologique, ce d’autant qu’aucune autre atteinte cartilagineuse n’etait retrouvee. Un hypermetabolisme larynge et tracheobronchique au TEP-scanner realise en l’absence de traitement corticoide fut un argument pour retenir ce diagnostic. Un mois apres reprise et majoration de la corticotherapie, cet examen etait normalise. Secondairement, lors de la decroissance prudente des corticoides, la patiente a developpe une chondrite nasale confirmant le diagnostic de polychondrite atrophiante. Conclusion Le TEP-scanner pourrait etre utile au diagnostic de la polychondrite atrophiante dans sa forme tracheobronchique isolee. Sa place dans le suivi therapeutique de cette maladie reste a evaluer et doit prendre en compte l’irradiation de cet examen.

Summary Objective This study aims to evaluate the new kit FIDIS™ APS (Biomedical Diagnostics) for the quantitative determination of anticardiolipin (ACA), anti-β2-glycoprotein I (β2-GPI) and antiprothrombin antibodies using the multiplex bead-based Luminex® technology. Material Three hundred and eighteen sera were tested: 30 sera from patients with antiphospholipid syndrome (APS), 47 sera from patients with antiphospholipid antibodies without APS, 30 sera from blood donors and 211 sera received in the laboratory for ACL or anti-β2GPI antibody assay. Methods Results were compared with those obtained with our routine ELISA techniques. Conclusion For ACA and anti-β2GPI antibodies, there was a good agreement between the FIDIS™ and the ELISA results (overall agreement superior to 85 %). FIDIS™ APS allows simultaneous determination of ACA and anti-β2-GPI antibodies as recommended by the Sydney international consensus. Simultaneous determination of antiprothrombin antibodies will permit to evaluate their clinical value.

The discovery of a hyperferritinemia is most of the time fortuitous. The diagnostic approach aims at looking for the responsible etiology and at verifying if an iron hepatic overload is present or not. Three diagnostic steps are proposed. The clinical elements and a few straightforward biological tests are sufficient at first to identify one of the four main causes: alcoholism, inflammatory syndrome, cytolysis, and metabolic syndrome. None of these causes is associated with a significant iron hepatic overload. If the transferring saturation coefficient is raised (50%) a hereditary hemochromatosis should be discussed. Secondly, less common disorders will be discussed. Among these, only the chronic hematological disorders either acquired or congenital are at risk of iron hepatic overload. Thirdly, if a doubt persists in the etiologic research, and the serum ferritin level is very high or continues to rise, it is essential to verify that there is no iron hepatic overload. For that purpose, the MRI with study of the iron overload is the main test, which will guide the therapeutic attitude. Identification of more than a single etiology occurs in more than 40% of the cases.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare form of systemic vasculitis in which cardiac involvement is frequent and severe, and accounts for half of EGPA-related deaths. ANCA-positive EGPA differs from ANCA-negative EGPA in that the former is significantly associated with renal involvement, peripheral neuropathy and biopsy proven vasculitis, whereas the latter is associated with cardiac involvement. Herein, we report a case of EGPA with myocarditis in a woman, who was successfully treated with steroids and cyclophosphamide. This report highlights the importance of diagnosing cardiac involvement in EGPA early, especially in ANCA-negative patients.

Background Pulmonary mucormycosis (PM) is a life-threatening fungal infection with an increasing incidence among patients with acute leukemia. In some immunocompromised hosts, the reversed halo sign (RHS) has been described on the pulmonary computed tomographic (CT) scan of patients with mucormycosis. Methods This study reports a single-center experience with PM exclusively in patients with acute leukemia. Clinical records, laboratory results, and CT scans were retrospectively analyzed to evaluate the clinical usefulness of the RHS for the early identification and treatment of PM, with regard to outcomes in these patients. Results Between 2003 and 2012, 16 cases of proven PM were diagnosed among 752 consecutive patients receiving chemotherapy for acute myeloblastic or lymphoblastic leukemia. At the time PM was diagnosed, all patients but one were neutropenic. The study of sequential thoracic CT scans showed that during the first week of the disease, the RHS was observed in 15 of 16 patients (94%). Initially, other radiologic findings (multiple nodules and pleural effusion) were less frequent, but appeared later in the course of the disease (6% and 12% before vs 64% and 55% after the first week). After the diagnosis of PM, median overall survival was 25 weeks (range, 3-193 weeks), and 6 patients (38%) died before day 90. Conclusions In the particular setting of neutropenic leukemia patients with pulmonary infection, the presence of the RHS on CT was a strong indicator of PM. It could allow the early initiation of appropriate therapy and thus improve the outcome.

Scalp vein thrombosis is an unusual complication during giant cell arteritis. Revealed by headache, it can be misdiagnosed as a disease relapse. An ultrasound scan should rapidly be performed to make the diagnosis, avoiding inappropriate treatment escalation.

Differentiation of naive CD4(+) T helper (T(H)) cells is a major step of the adaptative immune response. When activated by pathogens in a specific cytokine environment, CD4(+) T cells differentiate into different subsets of T(H) cells with specific effector functions. T(H)1 lymphocytes orchestrate cellular immune response by producing interferon-γ and stimulating cytotoxic cells whereas T(H)2 cells orchestrate humoral immune response by producing interleukin-4 (IL-4), IL-5 and IL-10, leading to immunoglobulin production. Conversely, regulatory T cells (Treg) are capable of inhibiting immune response. Recently discovered, T(H)17 cells are characterized by their ability to produce IL-17 and play an important role in anti-infectious and inflammatory immune responses. This review focuses on present knowledge about T(H)17 cells: their induction, phenotype, functions, implications in host defense and human disease, and their potential to represent possible therapeutic targets.

Immune thrombocytopenia (ITP) is an auto-immune disease associating a peripheral platelet destruction without increased central production.Forty patients with chronic ITP were retrospectively analyzed for clinical and biological presentation and response to treatment.Mean age at diagnosis was 54 years. ITP was revealed by hemorrhage in 65 % of the patients. Despite very low platelet count, no life threatening hemorrhage was observed. Platelet associated antibodies were found in 66 %, usually directed against GPIIb/IIIa. Corticosteroids were used as first line treatment, with response in 54 %, and relapse in 86 %. A response was observed in 42.1 % with dapsone, which was well tolerated, a relapse occurring in 37.5 % of the patients. Rituximab (RTX) allowed a response rate of 42.1 %, prolonged in 40 % of the patients. A response was achieved in 42.9 % cases after splenectomy, without any relapse. No factor was identified to predict the response to treatment.ITP is a rare disorder occurring most frequently in middle aged patients. Because of high relapse or no response rates, many treatments should be used. Dapsone offers a good efficacy without major side effects. RTX is well tolerated and allows a good response rate. The use of new agents like thrombopoietin receptor agonist or new therapeutics against B lymphocytes should be defined.

Immune thrombocytopenia is an autoimmune disease characterized by a peripheral destruction of platelets. B lymphocytes play a key role but pathogenesis is more complex, involving humoral and cellular immunity associated with an inappropriate platelet production. In this article, we review the different pathogenic pathways, leading to new therapeutic strategies.

Interferon-beta (IFN-beta) therapy can trigger immune adverse effects. We report a patient, who was treated for multiple sclerosis (MS) by IFN-beta during 3 years before developing a severe colitis due to Crohn's disease (CD). Neurological manifestations may occur in CD but rarely mimic MS. This report's points highlight the possible association of MS and CD, where IFN-beta therapy probably unmasked CD. Indeed, similar cases of CD flares have been reported after IFN-alpha therapy for chronic C hepatitis.

Diffuse and abundant sweating in a middle age patient evolving for several weeks should raise suspicion of malignant lymphoma and infectious or neuroendocrine disorders before considering a drug origin. We report a patient who presented with severe and invalidating excessive sweating related to hydromorphone therapy for vertebral pain. Amongst their many reported side-effects, excessive sweating disappearing with discontinuation of the drug have been reported with some opiates.

Celiac disease is a common condition with a prevalence of about 1%. Clinical extradigestive presentations are various and stroke can be one of the neurological manifestations.Two cases of stroke occurring in young adults are described, leading to the diagnosis of celiac disease. Hyperhomocysteinemia or cerebral arterial vasculopathy in one case and antiphospholipid syndrome in the other case are thought to be involved in the pathogenesis of stroke during celiac disease.The possible presence of celiac disease should be discussed in unexplained young adult stroke.

Psoas abscess is a rare disease in developed countries. Its diagnosis is difficult and any delay could lead to a worsen prognosis. The aim of this study is to determine the best diagnostic and therapeutic practices.A retrospective study of psoas abscess that occurred during six months was performed.Six cases of secondary psoas abscess are reported. They were associated with spondylodiscitis in three cases, arthritis and gynaecologic infection in the three remaining cases. Anatomic diagnosis was performed by tomodensitometry. Microbiologic diagnosis was obtained by blood culture or direct puncture of the abscess. Antibiotics were associated with percutaneous drainage in two cases, with simple puncture in one case, and with surgery in one case. A local improvement w observed in all cases. The oldest patients presented the worst complications which were not directly caused by the abscess.Physicians must be aware of psoas abscess because of their increasing incidence. Despite the fact that digestive pathologies are the main cause of secondary psoas abscess, bone infections, particularly spine infections, should be taken into consideration. Tomodensitometry guided puncture or percutaneous drainage are of diagnostic and therapeutic interest. Infectious samples must be taken before starting antibiotics, which have to be efficient against Gram negative bacillus, anaerobes and Staphylococcus aureus. Surgery must be quickly performed when the primary infection localisation need it, in case of voluminous abscess or when antibiotics and drainage are inefficient.

Phenotypic heterogeneity is very frequently observed in dermatomyositis (DM) patients depending on muscular weakness severity and extra-muscular involvement including interstitial lung disease or neoplasia. Dermatomyositis specific auto-antibodies are observed in 30% of patients. Among them an autoantibody recognizing melanoma differentiation-associated protein-5 (MDA-5) has been reported mainly in asiatic patients. We described here the first European study. We report the first French retrospective series of MDA-5 positive DM. MDA-5 antibodies were detected by Immunodot (D-Tek®). Seventeen patients (11 women, 10 Afro-Caribbean) have been included. The mean age was 44.2 [16–71] at presentation. Only two patients had severe muscle weakness and five had increase CK level. Muscle biopsy was always abnormal (n = 7) showing infiltrates (n = 6) and/or endomysial fibrosis (n = 1). One patient had severe myocardial impairment. Interstitial lung disease was often present (12/14) and subacute in 9 patients. CTscan demonstrated a pattern of non specific interstitial pneumonitis (n = 13), and/or organized pneumonia (n = 8). All patients had skin manifestations (n = 14): ulcerations or skin necrosis (n = 6), hyperkeratosis (n = 3), facial erythema (n = 4) and Raynaud’s phenomenon (n = 4). All patients suffered from arthralgia. Six patients had polyadenopathy. During follow-up (mean 44.2 months), 5 patients have been admitted in intensive care unit for an acute respiratory failure and 2 patients died, from respiratory cause (n = 1) and infection (n = 1). One patient had a cavum carcinoma. MDA-5 positive DM patients have a homogeneous presentation. Muscular disease is not severe whereas extra-muscular involvement is at the foreground lesions and may lead to life threatening complications.

We report the first detection of Seoul virus (SEOV) in humans in Europe, causing severe disease in a pregnant woman in France in October 2012. The patient's laboratory test results mimicked that of pregnancy-induced liver pathologies such as acute fatty liver of pregnancy (AFLP) with severe renal failure. This led to an emergency delivery (at 27 weeks' gestation). On the basis of gene S (small) sequence analysis, the Seoul hantavirus strain detected was found to belong to the main SEOV phylogroup. .