C
Christine Bodemer
Researcher at University of Paris
Publications - 47
Citations - 1624
Christine Bodemer is an academic researcher from University of Paris. The author has contributed to research in topics: Gene & Incontinentia pigmenti. The author has an hindex of 12, co-authored 47 publications receiving 1300 citations. Previous affiliations of Christine Bodemer include Sorbonne & Paris Descartes University.
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Journal ArticleDOI
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Gillian I. Rice,Jacquelyn Bond,Aruna Asipu,Rebecca L. Brunette,Iain W. Manfield,Ian M. Carr,Jonathan C. Fuller,Richard M. Jackson,Teresa Lamb,Tracy A Briggs,Manir Ali,Hannah Gornall,Lydia R Couthard,Alec Aeby,Simon Attard-Montalto,Enrico Bertini,Christine Bodemer,Knut Brockmann,Louise Brueton,Peter Corry,Isabelle Desguerre,Elisa Fazzi,Angels Garcia Cazorla,Blanca Gener,Ben C.J. Hamel,Arvid Heiberg,Matthew F. Hunter,Marjo S. van der Knaap,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Charles Marques Lourenço,Daphna Marom,Michael F. McDermott,William G. Van Der Merwe,Simona Orcesi,Julie S. Prendiville,Magnhild Rasmussen,Stavit A. Shalev,Doriette Soler,Marwan Shinawi,Ronen Spiegel,Tiong Yang Tan,Adeline Vanderver,Emma Wakeling,Evangeline Wassmer,Elizabeth Whittaker,Pierre Lebon,Daniel B. Stetson,David T. Bonthron,Yanick J. Crow +50 more
TL;DR: Mutations in SAMHD1 are described as the cause of Aicardi-Goutières syndrome at the AGS5 locus and data is presented to show that SAM HD1 may act as a negative regulator of the cell-intrinsic antiviral response.
Journal ArticleDOI
A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
Gilles Courtois,Asma Smahi,Janine Reichenbach,Rainer Doffinger,Caterina Cancrini,Marion C. Bonnet,Anne Puel,Christine Chable-Bessia,Shoji Yamaoka,Jacqueline Feinberg,Sophie Dupuis-Girod,Christine Bodemer,Susanna Livadiotti,Francesco Novelli,Paolo Rossi,Alain Fischer,Alain Israël,Arnold Munnich,Françoise Le Deist,Jean-Laurent Casanova +19 more
TL;DR: An autosomal-dominant form of EDA-ID associated with a heterozygous missense mutation at serine 32 of IkappaBalpha is described, which enhances the inhibitory capacity of IkappBalpha by preventing its phosphorylation and degradation, and results in impaired NF-kappaB activation.
Journal ArticleDOI
Paediatric mastocytosis: a systematic review of 1747 cases
C. Méni,Julie Bruneau,Julie Bruneau,Sophie Georgin-Lavialle,L. Le Saché-de Peufeilhoux,Ghandi Damaj,Smail Hadj-Rabia,Smail Hadj-Rabia,Sylvie Fraitag,Patrice Dubreuil,Patrice Dubreuil,Patrice Dubreuil,Olivier Hermine,Christine Bodemer,Christine Bodemer +14 more
TL;DR: A literature review of 1747 cases published between 1950 and April 2014 found that paediatric mastocytosis was previously considered to be a benign and spontaneously regressing disease, but this evolution is impossible to predict.
Journal ArticleDOI
Skin manifestations of COVID-19 in children: Part 1.
David Andina,A Belloni-Fortina,Christine Bodemer,E Bonifazi,A Chiriac,Isabel Colmenero,Andrea Diociaiuti,M El-Hachem,L Fertitta,D van Gysel,Angela Hernández-Martín,T Hubiche,C Luca,L Martos-Cabrera,Annabel Maruani,F Mazzotta,A D Akkaya,M Casals,J Ferrando,Ramon Grimalt,I Grozdev,Veronica A. Kinsler,M A Morren,M Munisami,A Nanda,M P Novoa,Hagen Ott,Suzanne G.M.A. Pasmans,Carmen Salavastru,V Zawar,Antonio Torrelo +30 more
TL;DR: This review summarizes the current knowledge on the cutaneous manifestations of COVID‐19 in children after thorough and critical review of articles published in the literature and from the personal experience of a large panel of paediatric dermatologists in Europe.
Journal ArticleDOI
Family burden in inherited ichthyosis: creation of a specific questionnaire
H. Dufresne,Smail Hadj-Rabia,Smail Hadj-Rabia,C. Méni,Vincent Sibaud,Christine Bodemer,Christine Bodemer,Charles Taieb +7 more
TL;DR: The internal and external validity of the “FBI” questionnaire was confirmed and it is correlated to the severity of ichtyosis.