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We report the case of an 80-year-old woman who presented one episode of cardiopulmonary arrest and two episodes of acute airway obstruction. We found in this patient the presence of tracheomalacia caused by megaesophagus compression secondary to achalasia probably responsible for episodes of acute airway obstruction and cardiopulmonary arrest.

Mast cells are key actors of innate immunity and Th2 adaptive immune response which counterbalance Th1 response, critical for anti-viral immunity. Clonal Mast Cells Activation Disorders (cMCADs) such as mastocytosis and clonal mast cells activation syndrome are characterized by an abnormal mast cells accumulation and/or activation. No data have been published on the anti-viral immune response of patients with cMCADs. The aims of the study were to collected, in a comprehensive way, outcomes of cMCADs patients who experienced a biologically-proven COVID-19 and to characterize both anti-endemic coronaviruses and specific anti-SARS-CoV-2 immune responses in these patients. Clinical follow-up and outcome data were collected prospectively for one year within the French rare disease network CEREMAST encompassing patients from all over the country. Anti-SARS-CoV-2 and anti-endemic coronaviruses specific T-cells were assessed with an enzyme-linked immunospot assay (EliSpot) and anti-SARS-CoV-2 humoral response with dosage of circulating levels of specific IgG, IgA and neutralizing antibodies. Overall, 32 cMCADs patients were identified. None of them required non-invasive or mechanical ventilation; two patients were hospitalized to receive oxygen and steroid therapy. In 21 patients, a characterization of the SARS-CoV-2-specific immune response has been performed. A majority of patients showed a high proportion of circulating SARS-CoV-2-specific interferon (IFN)-γ producing T-cells and high levels of anti-Spike IgG antibodies with neutralizing activity. In addition, no defects in anti-endemic coronaviruses responses were found in patients with cMCADs compared to non-cMCADs controls. Patients with cMCADs frequently showed a spontaneous IFN-γ T-cell production in absence of any stimulation that correlated with circulating basal tryptase levels, a marker of mast cells burden. These findings underscore that patients with cMCADs might be not at risk of severe COVID-19 and the spontaneous IFN-γ production might explain this observation.Author SummaryMast cells are immune cells involved in many biological processes including the anti-microbial response. However, previous studies suggest that mast cells may have a detrimental role in the response against viruses such as SARS-CoV-2, responsible for COVID-19. When a mutation occurs in mast cells, it can lead to a group of diseases called clonal mast cells activation disorders (cMCADs), characterized by deregulated activation of these cells. Hence, patients with cMCADs might be more susceptible to severe COVID-19 than general population.We therefore conducted a 1-year study in France to collect data from all cMCADs patients included in the CEREMAST rare disease French network and who experienced COVID-19. Interestingly, we did not find any severe COVID-19 (i.e. requiring non-invasive or mechanical ventilation) in spite of well-known risk factors for severe COVID-19 in a part of cMCADs patients.We then have studied the immune response against SARS-CoV-2 and other endemic coronaviruses in these patients. We did not observe any abnormalities in the immune response either at the level of T and B lymphocytes. These findings underscore that these patients might not be at risk of severe COVID-19 as one might have feared.

International audience; BackgroundMast cells are key players in innate immunity and the TH2 adaptive immune response. The latter counterbalances the TH1 response, which is critical for antiviral immunity. Clonal mast cell activation disorders (cMCADs, such as mastocytosis and clonal mast cell activation syndrome) are characterized by abnormal mast cell accumulation and/or activation. No data on the antiviral immune response in patients with MCADs have been published.ObjectiveTo study a comprehensive range of outcomes in patients with cMCAD with PCR- or serologically confirmed coronavirus disease 2019 and to characterize the specific anti–severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) immune response in this setting.MethodsClinical follow-up and outcome data were collected prospectively over a 12-month period by members of the French Centre de Référence des Mastocytoses rare disease network. Anti–SARS-CoV-2–specific T-cell activity was measured with an ELISA, and humoral responses were evaluated by assaying circulating levels of specific IgG, IgA, and neutralizing antibodies.ResultsOverall, 32 patients with cMCAD were evaluated. None required noninvasive or mechanical ventilation. Two patients were admitted to hospital for oxygen and steroid therapy. The SARS-CoV-2–specific immune response was characterized in 21 of the 32 patients. Most had high counts of circulating SARS-CoV-2–specific, IFN-γ–producing T cells and high titers of neutralizing antispike IgGs. The patients frequently showed spontaneous T-cell IFN-γ production in the absence of stimulation; this production was correlated with basal circulating tryptase levels (a marker of the mast cell burden).ConclusionsPatients with cMCADs might not be at risk of severe coronavirus disease 2019, perhaps due to their spontaneous production of IFN-γ.

We report the 11 cases of +8-MDS/MPN associated with Behcet's-like syndrome and compare them with Behcet's disease and Crohn's disease, pool with literature cases for analysis. Data for patients with +8-MDS/MPN and Behçet's-like syndrome were collected from MINHEMON. Eleven patients had Behcet's-like syndrome and +8-MDS/MPN (median age 75 years [IQR 65-87]; M/F ratio 0.8). MDS and Behcet's-like syndrome were diagnosed at the same time (7/11, 64%). By comparison with 63 patients with idiopathic Behcet's disease without associated MDS, those with Behcet's-like syndrome and +8-MDS/MPN were older (median 75 vs 48 years

OBJECTIVE We report cases of myelodysplastic syndrome/myeloproliferative neoplasms (MDS/MPN) with trisomy 8 associated with inflammatory and autoimmune diseases (IADs). METHOD Data for 21 patients with trisomy 8-MDS/MPN and IADs were analyzed and compared to 103 patients with trisomy 8-MDS/MPN without IADs. RESULTS The median age of MDS/MPN patients with IADs was 67 [59-80]. The IADs were Behcet's-like disease in 11 (52%) patients, inflammatory arthritis in 4 (19%) and Sjogren's syndrome, autoimmune hemolytic anemia, aseptic abscess, periarteritis nodosa, Sweet's syndrome and unclassified vasculitis in one patient each. Overall, 17/21 (81%) patients with IADs received treatment (88% with steroids), with complete and partial response in 7/17 (35%) and 8/17 (47%), respectively. The effect of MDS treatment on IADs could be assessed in seven patients receiving azacytidine: five achieved remission and two partial response. As compared with the 103 trisomy 8-MDS/MPN cases without IADs, those with IADs were more often non-European (P = 0.005) and had poor karyotype (P

Objectives We report myelodysplastic syndrome (MDS)-associated systemic inflammatory and autoimmune diseases (IADs) with cytogenetic trisomy 8, and describe their outcome, treatments efficacy and impact on MDS survival in a French multicenter retrospective study. Methods In this study, 21 patients with trisomy 8-MDS and IADs were analysed and compared to 103 MDS patients with trisomy 8 without IADs. Results The median age was 67 [59 – 80] years and the male/female ratio 0.9. The IADs were Behcet’s or Behcet’s-like disease in 11 (52%) cases, inflammatory arthritis in 4 (19%) cases, Sjogren’s syndrome, autoimmune hemolytic anaemia, aseptic abscesses, polyarterits nodosa, Sweet’s syndrome and unclassified vasculitis in one case each. Trisomy 8 karyotype was isolated in 8 cases (38%) and associated with other abnormalities in remaining cases. Seventeen (81%) IADs patients were treated (88% with steroids) with complete and partial response in 35% and 47%, respectively. A second-line therapy was required for steroid dependence or relapse in 38% of cases. The effect of MDS treatment on IADs could be assessed in 7 patients treated with Azacytidine : 5/13 (38%) achieved remission and 2/13 (15%) partial response of IADs. Compared with 103 trisomy 8-MDS/CMML patients without IADs, IADs patients were more often non-Caucasian (p=0.004), MDS subtype tended to be more frequently CRDM (p=0.09) and had more often a poor karyotype (p Conclusions The spectrum of IADs associated to trisomy 8-MDS is dominated by Behcet’s disease, but may also be other various immune disorders. Steroid therapy is often effective, but sparing therapies are mostly necessary. Disclosure of Interest None declared

Introduction Les conditions du metier d’agriculteur ont ete transformees et les risques n’ont jamais ete evalues correctement en France. L’union europeenne vient de re-autoriser l’emploi de certains produits phytosanitaires alors que les etudes demeurent tres parcellaires. Objectifs Tester la prevalence des troubles neuromusculaires chez les agriculteurs actifs ou retraites. Methodes Tous les patients hospitalises dans le service de medecine interne conventionnelle entre 09/2015 et 09/2017 ont ete inclus, leur(s) profession(s), exposition, symptomes et pathologies recueillis avec leur consentement. Les facteurs de risque et les elements confondants ont ete enregistres, les associations ont ete analysees en test du Chi2 et les odds ratio (OR) calcules avec l’aide du logiciel SAS. Resultats Au total, 2207 patients, 108 agriculteurs, 2099 non-agriculteurs. Au total, 25,93 % des agriculteurs versus 17,58 % des temoins presentaient une pathologie neuromusculaire (p = 0,028). Les agriculteurs presentaient plus d’exposition aux phytosanitaires (71,30 % vs 2,62 %, p = 5,10–80), plus de neuropathies peripheriques (14,81 % vs 5,91 %, p = 0,0009), plus de Parkinson (4,63 % vs 2,19 %, p = 0,1), plus de myalgies (8,33 % vs 4,19 %, p = 0,04), et plus d’uveites (6,48 % vs 2,53 %, p = 0,01). Discussion Il aurait mieux valu realiser notre etude dans la population generale ou avec les donnees de la Mutuelle sociale agricole, mais toutes nos demandes ont ete refusees. Conclusion Neuropathies peripheriques, uveites et myalgies sont significativement plus frequentes chez les agriculteurs, et la maladie de Parkinson semble plus frequente.

Introduction Le lymphome intravasculaire est une maladie rare dont l’incidence annuelle est estimee a 0,5 cas pour 100 000 habitants [1] . Il se caracterise par une proliferation de lymphocytes B atypiques dans la lumiere des petits vaisseaux. Le diagnostic est difficile en raison de presentations non specifiques dependantes des organes affectes et habituellement sans adenopathies. Des manifestations neurologiques centrales sont presentes dans 42 % a 75 % des cas [2] , [3] . Au vu de ces difficultes, la maladie est souvent disseminee au moment du diagnostic engendrant un pronostic pejoratif malgre des prises en charge therapeutiques agressives. Observation Nous presentons le cas d’une patiente de 39 ans initialement adressee pour cephalees, vertiges, aphasie motrice et paresthesies du membre inferieur gauche. L’IRM cerebrale montrait des stenoses etagees et distales de l’artere cerebrale posterieure droite, la presence d’hypersignaux T2 FLAIR et diffusion en nappe sous-corticaux bilateraux, associes a un hyposignal T2 echo de gradient a ce niveau et conclut a un aspect en faveur d’une vascularite. La ponction lombaire retrouvait 6 elements, 3 hematies et des protides a 1,76 g/L. Apres avoir ecarte une vascularite systemique, une endocardite, une cause infectieuse, une pathologie tumorale, le diagnostic de vascularite primitive du systeme nerveux central fut retenu. La patiente recut 3 bolus de methylprednisolone ayant engendres une remission complete des symptomes. Deux mois plus tard, la patiente fut hospitalisee dans un etat de confusion et de dyspnee associe a un syndrome tetra-pyramidal, des troubles praxiques, un syndrome frontal et des cephalees. L’IRM cerebrale realisee retrouvait une nette majoration des hypersignaux T2 FLAIR avec hyposignaux T2 echo de gradient en leur sein. Il existait alors une cytolyse hepatique, une cholestase et une thrombopenie. Le scanner thoraco-abdomino-pelvien montrait quelques lesions en verre depoli des apex pulmonaires. Un TEP scanner au 18-FDG fut realise retrouvant une fixation diffuse des medullaire osseuses sans autres anomalies de fixation. La realisation d’un myelogramme, d’une biopsie osteomedullaire et d’une ponction biopsie hepatique confirmerent le diagnostic de lymphome B a grandes cellules. A noter que l’arteriographie cerebrale realisee entre temps sous corticotherapie s’est revelee normale. Une chimiotherapie par rituximab, cyclpophosphamide, doxorubicine, oncovin et prednisone (R-CHOP) fut rapidement mise en place. Malheureusement l’issue fut defavorable avec deces de la patente suite a un œdeme cerebral majeur avec engagement le lendemain de la chimiotherapie. Conclusion Le lymphome intravasculaire est un diagnostic rare et difficile a cause de ses multiples presentations aspecifiques pouvant mimer de nombreuses pathologies y compris des vascularites cerebrales. C’est un defi diagnostique majeur pour le clinicien car son evolution necessite une prise en charge therapeutique agressive et rapide. Rapidite souvent compromise devant la difficulte diagnostique initiale assombrissant le pronostic de la maladie.