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Newsletter N°8 de la filière MaRIH

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FILIÈRE DE SANTÉ MALADIES
RARES IMMUNO-HÉMATOLOGIQUES

Replays de la 4ème journée nationale maladies rares immuno-hématologiques

La 4ème journée nationale des maladies rares immuno-hématologiques a eu lieu le jeudi 7 juin 2018 à Paris. En ce jour de grève, 70 participants ont assisté aux interventions des experts nationaux sur le thème des controverses :
- les maladies auto-immunes et déficits immunitaires (Pr Fischer)
- l’angioedème bradykinique et activation mastocytaire (Pr Bouillet vs Pr O. Fain)
- le PTI et la splénectomie (Dr Leblanc vs Pr Michel)
- les histiocytoses et thérapies ciblées (Pr Haroche vs Dr Donadieu)
et l’intervention de deux experts internationaux sur :
- match unrelated upfront transplantation in aplastic anemia (Pr Peffault de Latour vs Dr Risitano)
- high dose treatment in AL amyloidosis (Pr Jaccard vs Pr Schönland).

Les replays et présentations de cette journée sont disponibles sur notre site en cliquant ici.
Rendez-vous le 20 juin 2019 à la Maison de l'Amérique Latine pour la 5ème journée !
 


 

Les prochaines journées régionales interactives de la filière "Hauts-de-France" et "Océan indien"

En plus de sa journée nationale, la filière se déplace de région en région pour sensibiliser et former les médecins et internes au plus proche de leur lieu de travail. En 2019, les experts des centres de référence de la filière viendront à Lille pour les Hauts-de-France (mai) et à Saint-Denis de La Réunion pour l'Océan Indien (octobre).
Les dates seront prochainement communiqués sur notre agenda.
 


 

Un nouvel enseignement maladies rares immuno-hématologiques à suivre à distance !

En parallèle au DU d'immuno-hématologie en médecine interne qui a lieu à Paris, les médecins et internes pourront prochainement s'inscrire au MOOC MaRIH "maladies rares immuno-hématologiques" en ligne, avec les médecins experts des centres de référence. Lancement prévu début 2019 !
Inscriptions et informations sur le DU immunologie hématologie en médecine interne sur le site de l'UPEC.

L'agenda des 6 prochains mois
Les événements organisés par la filière, ses membres et ses partenaires

19/10/2018 : 11ème réunion annuelle du centre de référence des microangiopathies thrombotiques, Paris

20-22/10/2018 : Week-end des familles Anémie de Blackfan-Diamond, Lyon

20/10/2018 : Journée des familles et Assemblée générale de l'association de la Maladie de Fanconi, Paris

27/10/2018 : Assemblée générale de l'association AMAPTI, Marseille

21-23/11/2018 : 18ème Congrès de la Société Francophone de Greffe de Moelle et Thérapie Cellulaire, Montpellier

01-04/12/2018 : 60th ASH annual meeting, San Diego

12-14/12/2018 : 78ème Congrès de la Société Nationale Française de Médecine Interne et Session Maladies rares MaRIH le 13/12 de 14h à 15h30, Grenoble

13-14/12/2018 : Journées annuelles du centre de référence des déficits immunitaires héréditaires et DEFI, Paris

24-25/01/2019 : Congrès de la Société d'Hématologie et d'Immunologie Pédiatrique, Chamonix
 

PubliNews
Les dernières publications des centres de référence

AMYLOSE AL ET AUTRES MALADIES PAR DEPOT D'IG

Monoclonal gammopathy of clinical significance: a novel concept with therapeutic implications.

Comprehensive molecular characterization of a heavy chain deposition disease case.

Intensive haemodialysis using PMMA dialyser does not increase renal response rate in multiple myeloma patients with acute kidney injury.

Animal models of monoclonal immunoglobulin-related renal diseases.

APLASIES MEDULLAIRES

Aplastic anemia in the elderly: a nationwide survey on behalf of the French Reference Center for Aplastic Anemia.

Unrelated cord blood transplantation in patients with idiopathic refractory severe aplastic anemia: a nationwide phase 2 study.

Nationwide survey on the use of horse antithymocyte globulins (ATGAM) in patients with acquired aplastic anemia: A report on behalf of the French Reference Center for Aplastic Anemia.

HISTIOCYTOSES

Highly sensitive methods are required to detect mutations in histiocytoses.

Langerhans Cell Histiocytoma: A Benign Histiocytic Neoplasm of Diverse Lines of Terminal Differentiation.

Superior efficacy and similar safety of double dose anakinra in Erdheim-Chester disease after single dose treatment.

Hypoalphalipoproteinemia and BRAFV600E Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease.

BRAF V600E mutation detected in a case of Rosai-Dorfman disease.

Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease.

Phenotypes and survival in Erdheim-Chester disease: results from a 165-patient cohort

Efficacy of infliximab in the treatment of Erdheim-Chester disease.

ANGIOEDEMES A KININES

Pediatricians diagnosed few patients with childhood-presented hereditary angioedema: Icatibant Outcome Survey findings.

Efficacy of C1 inhibitor concentrate in hereditary angioedema with C1 inhibitor deficiency: Analysis in a French cohort.

Plasminogen gene mutation with normal C1 inhibitor hereditary angioedema: Three additional French families.

Hereditary Angioedema, Clinical Presentation and Socio-Economic Cost of 200 French Patients.

Evaluation of avoralstat, an oral kallikrein inhibitor, in a Phase 3 hereditary angioedema prophylaxis trial: The OPuS-2 study.

Effectiveness of icatibant for treatment of hereditary angioedema attacks is not affected by body weight: findings from the Icatibant Outcome Survey, a cohort observational study.

Specialist Advice Support for Management of Severe Hereditary Angioedema Attacks: A Multicenter Cluster-Randomized Controlled Trial.

CYTOPENIES AUTO-IMMUNES

Systematic Detection of Portal or Splenic Vein Thrombosis after Splenectomy for Immune Cytopenia.

Risk factors for bleeding, including platelet count threshold, in newly diagnosed immune thrombocytopenia adults.

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Treatment with cyclosporin in auto-immune cytopenias in children: The experience from the French cohort OBS’CEREVANCE.

MICROANGIOPATHIES THROMBOTIQUES

Eculizumab for catastrophic antiphospholipid syndrome-a case report and literature review.

Early Differentiation of Shiga Toxin-Associated Hemolytic Uremic Syndrome in Critically Ill Adults With  Thrombotic

Increased Fatty Acid Oxidation in Differentiated Proximal Tubular Cells Surviving a Reversible Episode of Acute Kidney Injury.

Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome.
Microangiopathy Syndromes.


Urinary transcriptomics reveals patterns associated with subclinical injury of the renal allograft.

Urinary mRNA analysis of biomarkers to epithelial mesenchymal transition of renal allograft.

French Network of systemic and immune disorders associated with hemopathies and cancer (MINHEMON). Autoimmune manifestations associated with lymphoma: characteristics and outcome in a multicenter retrospective cohort study.

DEFICITS IMMUNITAIRES HEREDITAIRES

Daratumumab in life-threatening autoimmunehemolytic anemia following hematopoietic stem cell transplantation.

T cell defects in patients with ARPC1B germline mutations account for theircombined immunodeficiency.

Impaired IL-12- and IL-23-MediatedImmunity Due to IL-12Rβ1 Deficiency in Iranian Patients with MendelianSusceptibility to Mycobacterial Disease.

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.

Interest of immunodeficiencyscreening in adult after admission in medical intensive care unit for severeinfection, a retrospective and a prospective study: the Intensive Care Unit andPrimary and Secondary Immunodeficiency (ICUSPID) study.

Efficacy of oral sirolimus as salvage therapy in refractory lichen planus associated with immune deficiency.

Treatment dilemmas in asymptomatic children with primary haemophagocytic lymphohistiocytosis.

Epidermodysplasia verruciformis: Genetic heterogeneity and novel EVER1 and EVER2 mutations revealed by genome-wide analysis.

Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.

PROMIDISα: A T-cell receptor αsignature associated with immunodeficiencies caused by V(D)J recombinationdefects.

Toutes les publications du CEREDIH en cliquant sur ce lien.
 

décoration

La filière de santé maladies rares MaRIH est un réseau financé et piloté par le Ministère de la Santé.
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