Complications and treatment of patients with β-thalassemia in France: results of the National Registry

Autor: Isabelle Thuret, Corinne Pondarré, Anderson Loundou, Dominique Steschenko, Robert Girot, Dora Bachir, Christian Rose, Vincent Barlogis, Jean Donadieu, Mariane de Montalembert, Isabelle Hagege, Brigitte Pegourie, Claire Berger, Marguerite Micheau, Françoise Bernaudin, Thierry Leblanc, Laurence Lutz, Frédéric Galactéros, Marie-Claude Siméoni, Catherine Badens

Publikováno v: Haematologica, Vol 95, Iss 5 (2010)

Background β-thalassemia is a rare disease in France, encountered mainly in patients originating from Italy and North Africa. In the setting of the recent French plan for rare diseases, a National Registry for thalassemia has been developed since 20

Externí odkaz: https://doaj.org/article/0591f1f73cfb4ea296cb82d5fe649530

Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

Autor: Felipe Suarez, Fran cois Tron, Nathalie Lambert, Vincent Barlogis, David Boutboul, Yvon Lebranchu, Celine Cazorla, Marie-Olivia Chandesris, Nizar Mahlaoui, Virginie Grandin, Isabelle Melki, Marianne Debré, Stephanie Ndaga, Olivier Hermine, Marguerite Micheau, Corinne Jacques, Gerard Body, Gilles Palenzuela, Christine Bodemer, Virginie Gandemer, Jean-Louis Stephan, Chantal Harre, Rolland Jaussaud, Anne Durandy, Stephane Dominique, Nathalie Aladjidi, Monique Forveille, Catherine Mathey, Martine Munzer, Capucine Picard, Brigitte Bader-Meunier, André Baruchel, Jean-Laurent Casanova, Muriel Le Bourgeois, Eric Oksenhendler, Ling Yun, Angels Natividad, Fanny Fouyssac, Cyrille Hoarau, Stéphane Blanche, Anne Puel, Caroline Thumerelle, Marie-Alexandra Alyanakian, Caroline Thomas, Alain Fischer, Claire Fieschi, Olivier Lortholary

Publikováno v: Medicine
Medicine, 2012, 91 (4), pp.e1-e19. ⟨10.1097/MD.0b013e31825f95b9⟩
Medicine, Lippincott, Williams & Wilkins, 2012, 91 (4), pp.e1-e19. 〈10.1097/MD.0b013e31825f95b9〉
Medicine, Lippincott, Williams & Wilkins, 2012, 91 (4), pp.e1-e19. ⟨10.1097/MD.0b013e31825f95b9⟩

International audience; ABSTRACT: Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. We documented the molecular, cellular, and clinical fe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::374240933d9fee7bdb71b68525757f49
https://doi.org/10.1097/md.0b013e31825f95b9

Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. A report from the French neutropenia register

Autor: A. Notz-Carrere, Christine Bellanné-Chantelot, Bruno Cassinat, Thierry Leblanc, M L Menot, Christine Chomienne, Marguerite Micheau, Yves Perel, J. Donadieu, Christelle Vaury, Brigitte Bader-Meunier

Publikováno v: Leukemia. 18:1553-1555

Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. A report from the French neutropenia register

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f89fc84ac59a0ca9058e3f906c8cdb10
https://doi.org/10.1038/sj.leu.2403431

Complications and treatment of patients with β-thalassemia in France: results of the National Registry

Autor: Marie-Claude Simeoni, Vincent Barlogis, Anderson Loundou, Corinne Pondarré, Jean Donadieu, Mariane de Montalembert, Claire Berger, Marguerite Micheau, Dominique Steschenko, Christian Rose, Frédéric Galactéros, Laurence Lutz, Isabelle Thuret, Brigitte Pegourie, Catherine Badens, Françoise Bernaudin, Thierry Leblanc, Robert Girot, Isabelle Hagège, Dora Bachir

Publikováno v: Haematologica. 95(5)

Background β-thalassemia is a rare disease in France, encountered mainly in patients originating from Italy and North Africa. In the setting of the recent French plan for rare diseases, a National Registry for thalassemia has been developed since 20

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84084d025d5151de6ff5d2a41f2282ff
https://pubmed.ncbi.nlm.nih.gov/20007138

Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group

Autor: Jean, Donadieu, Thierry, Leblanc, Brigitte, Bader Meunier, Mohamed, Barkaoui, Odile, Fenneteau, Yves, Bertrand, Micheline, Maier-Redelsperger, Marguerite, Micheau, Jean Louis, Stephan, Noel, Phillipe, Pierre, Bordigoni, Annie, Babin-Boilletot, Philippe, Bensaid, Anne Marie, Manel, Etienne, Vilmer, Isabelle, Thuret, Stephane, Blanche, Eliane, Gluckman, Alain, Fischer, Françoise, Mechinaud, Bertrand, Joly, Thierry, Lamy, Olivier, Hermine, Bruno, Cassinat, Christine, Bellanné-Chantelot, Christine, Chomienne

Publikováno v: Haematologica. 90(1)

The two main complications of severe chronic neutropenia are fatal sepsis and myelodysplasia/acute leukemia (MDS/AL). Granulocyte colony-stimulating factor (G-CSF) therapy has significantly reduced the frequency and severity of infections, but its po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4af4c7c8ef97b1d383205faa68b83f90
https://pubmed.ncbi.nlm.nih.gov/15644298