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

Human uracil–DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

Autor: Alain Fischer, Anne Durandy, Hans D. Ochs, Wen I. Lee, Patrick Revy, Nadia Catalan, Leman Yel, Shigeaki Nonoyama, Geir Slupphaug, Hans E. Krokan, Kohsuke Imai, Bodil Kavli, Monique Forveille

Publikováno v: Nature Immunology. 4:1023-1028

Activation-induced cytidine deaminase (AID) is a 'master molecule' in immunoglobulin (Ig) class-switch recombination (CSR) and somatic hypermutation (SHM) generation, AID deficiencies are associated with hyper-IgM phenotypes in humans and mice. We sh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ec1c305504645a2f6a8cee6c67aa8b5
https://doi.org/10.1038/ni974

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Autor: Yves Levy, Alain Fischer, Alessandro Plebani, Ozden Sanal, Frederic Geissmann, Ilhan Tezcan, Kazuo Kinoshita, Masamichi Muramatsu, Anne Durandy, Hülya Kayserili, Nicole Brousse, Monique Forveille, Fügen Ersoy, Patrick Revy, Dufourcq-Lagelouse R, Alberto G. Ugazio, Nadia Catalan, Taro Muto, Tasuku Honjo, Luigi D. Notarangelo, Andrew R. Gennery

Publikováno v: Cell. 102:565-575

The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in patients with the autosomal r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fe45370c3f96376098ce23fc44b7305
https://doi.org/10.1016/s0092-8674(00)00079-9

Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients

Autor: Alain Fischer, Pierre Charneau, Chantal Lagresle-Peyrou, Monique Forveille, Kheira Beldjord, Christophe Hue, Fatine Benjelloun, Marina Cavazzana-Calvo, Isabelle André-Schmutz, Salima Hacein-Bey-Abina, Delphine Bonhomme, Jean-Pierre de Villartay, Anne Durandy

Publikováno v: Molecular Therapy
Molecular Therapy, Cell Press, 2008, 16 (2), pp.396-403. ⟨10.1038/sj.mt.6300353⟩
Molecular Therapy, 2008, 16 (2), pp.396-403. ⟨10.1038/sj.mt.6300353⟩
Molecular Therapy, Nature Publishing Group, 2008, 16 (2), pp.396-403. ⟨10.1038/sj.mt.6300353⟩
Molecular Therapy, Nature Publishing Group, 2008, 16 (2), pp.396-403. 〈10.1038/sj.mt.6300353〉

International audience; Severe combined immunodeficiency (SCID) caused by mutation of the recombination-activating gene 1 (RAG1) or Artemis gene lead to the absence of B- and T-cell differentiation. The only curative treatment is allogeneic bone marr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c630eb39db78b9c98b129c1ba341e47c
https://hal-pasteur.archives-ouvertes.fr/pasteur-00457747

Induction by anti-CD40 antibody or soluble CD40 ligand and cytokines of IgG, IgA and IgE production by B cells from patients with X-linked hyper IgM syndrome

Autor: Françoise Rousset, Michèle Milili, Anne Durandy, Claudine Schiff, Gonzalo Mazzei, J Y Bonnefoy, Monique Forveille, Alain Fischer

Publikováno v: European journal of immunology. 23(9)

We studied the ability of B lymphocytes from patients with X-linked hyper IgM syndrome (HIGM1) to be activated via the CD40 membrane receptor. HIGM1 is caused by a CD40 ligand gene mutation, leading to defective expression on the membrane of activate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f160d9cb6b19da535a68ddb4b69a41e
https://pubmed.ncbi.nlm.nih.gov/7690328