Article
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.
Medicine - 1 Jul 2012
Chandesris Marie-Olivia, Melki Isabelle, Natividad Angels, Puel Anne, Fieschi Claire, Yun Ling, Thumerelle Caroline, Oksenhendler Eric, Boutboul David, Thomas Caroline, Hoarau Cyrille, Lebranchu Yvon, Stephan Jean-Louis, Cazorla Celine, Aladjidi Nathalie, Micheau Marguerite, Tron François, Baruchel André, Barlogis Vincent, Palenzuela Gilles, Mathey Catherine, Dominique Stéphane, Body Gérard, Munzer Martine, Fouyssac Fanny, Jaussaud Rolland, Bader-Meunier Brigitte, Mahlaoui Nizar, Blanche Stéphane, Debré Marianne, Le Bourgeois Muriel, Gandemer Virginie, Lambert Nathalie, Grandin Virginie, Ndaga Stéphanie, Jacques Corinne, Harre Chantal, Forveille Monique, Alyanakian Marie-Alexandra, Durandy Anne, Bodemer Christine, Suarez Felipe, Hermine Olivier, Lortholary Olivier, Casanova Jean-Laurent, Fischer Alain, Picard Capucine
Abstract excerpt
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 features of 60 patients with heterozygous STAT3 mutations from 47 kindreds followed in France. We identified 11 known and 13 new mutations of STAT3. Low levels of interleukin (IL)-6-dependent...
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