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  1. Article ; Online: Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

    Orsetta Zuffardi / Jole Messa / Baran Bayindir / Giovanni Pieri / Lorenzo Andrea Bassi / Giulia Rossetti / Alexandra Madè Laura Losa / Erika Della Mina / Mariangela Cisternino / Roberto Ciccone

    Case Reports in Genetics, Vol

    2013  Volume 2013

    Keywords Genetics ; QH426-470 ; Biology (General) ; QH301-705.5 ; Science ; Q ; DOAJ:Genetics ; DOAJ:Biology ; DOAJ:Biology and Life Sciences
    Language English
    Publishing date 2013-01-01T00:00:00Z
    Publisher Hindawi Publishing Corporation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: IRF4 haploinsufficiency in a family with Whipple’s disease

    Antoine Guérin / Gaspard Kerner / Nico Marr / Janet G Markle / Florence Fenollar / Natalie Wong / Sabri Boughorbel / Danielle T Avery / Cindy S Ma / Salim Bougarn / Matthieu Bouaziz / Vivien Béziat / Erika Della Mina / Carmen Oleaga-Quintas / Tomi Lazarov / Lisa Worley / Tina Nguyen / Etienne Patin / Caroline Deswarte /
    Rubén Martinez-Barricarte / Soraya Boucherit / Xavier Ayral / Sophie Edouard / Stéphanie Boisson-Dupuis / Vimel Rattina / Benedetta Bigio / Guillaume Vogt / Frédéric Geissmann / Lluis Quintana-Murci / Damien Chaussabel / Stuart G Tangye / Didier Raoult / Laurent Abel / Jacinta Bustamante / Jean-Laurent Casanova

    eLife, Vol

    2018  Volume 7

    Abstract: Most humans are exposed to Tropheryma whipplei (Tw). Whipple’s disease (WD) strikes only a small minority of individuals infected with Tw (<0.01%), whereas asymptomatic chronic carriage is more common (<25%). We studied a multiplex kindred, containing ... ...

    Abstract Most humans are exposed to Tropheryma whipplei (Tw). Whipple’s disease (WD) strikes only a small minority of individuals infected with Tw (<0.01%), whereas asymptomatic chronic carriage is more common (<25%). We studied a multiplex kindred, containing four WD patients and five healthy Tw chronic carriers. We hypothesized that WD displays autosomal dominant (AD) inheritance, with age-dependent incomplete penetrance. We identified a single very rare non-synonymous mutation in the four patients: the private R98W variant of IRF4, a transcription factor involved in immunity. The five Tw carriers were younger, and also heterozygous for R98W. We found that R98W was loss-of-function, modified the transcriptome of heterozygous leukocytes following Tw stimulation, and was not dominant-negative. We also found that only six of the other 153 known non-synonymous IRF4 variants were loss-of-function. Finally, we found that IRF4 had evolved under purifying selection. AD IRF4 deficiency can underlie WD by haploinsufficiency, with age-dependent incomplete penetrance.
    Keywords Whipple's disease ; primary immunodeficiency ; IRF4 ; haploinsufficiency ; Medicine ; R ; Science ; Q ; Biology (General) ; QH301-705.5
    Subject code 610
    Language English
    Publishing date 2018-03-01T00:00:00Z
    Publisher eLife Sciences Publications Ltd
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article: Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

    Israel, Laura / Andrew Moran / Anne Puel / Avinash Abhyankar / Aziz Belkadi / Bruce Beutler / Capucine Picard / Carolina Prando / Damien Chaussabel / Elisabeth Israelsson / Erika Della Mina / François Vandenesch / Frederic Batteux / Jean-Laurent Casanova / Jethro Herberg / Katarzyna Bulek / Laurent Abel / Lazaro Lorenzo / Leonard E. Weisman /
    Ling Yun / Marc Descatoire / Maya Chrabieh / Michael Levin / Nicole A. Lemmens / Peter D. Arkwright / Sandra Weller / Théo Lasseau / Vanessa Sancho-Shimizu / Vincent Pedergnana / Willem J.B. van Wamel / Xiaoxia Li / Ying Wang / Yuval Itan / Zhao Zhang

    Cell. 2017 Feb. 23, v. 168, no. 5

    2017  

    Abstract: The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP deficiency. Life-threatening staphylococcal disease occurred during childhood in the proband, ... ...

    Abstract The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP deficiency. Life-threatening staphylococcal disease occurred during childhood in the proband, but not in the other seven homozygotes. Responses to all Toll-like receptor 1/2 (TLR1/2), TLR2/6, and TLR4 agonists were impaired in the fibroblasts and leukocytes of all TIRAP-deficient individuals. However, the whole-blood response to the TLR2/6 agonist staphylococcal lipoteichoic acid (LTA) was abolished only in the index case individual, the only family member lacking LTA-specific antibodies (Abs). This defective response was reversed in the patient, but not in interleukin-1 receptor-associated kinase 4 (IRAK-4)-deficient individuals, by anti-LTA monoclonal antibody (mAb). Anti-LTA mAb also rescued the macrophage response in mice lacking TIRAP, but not TLR2 or MyD88. Thus, acquired anti-LTA Abs rescue TLR2-dependent immunity to staphylococcal LTA in individuals with inherited TIRAP deficiency, accounting for incomplete penetrance. Combined TIRAP and anti-LTA Ab deficiencies underlie staphylococcal disease in this patient.
    Keywords adaptive immunity ; agonists ; childhood ; fibroblasts ; homozygosity ; humans ; innate immunity ; interleukin-1 ; leukocytes ; lipoteichoic acids ; macrophages ; mice ; monoclonal antibodies ; patients ; penetrance ; Toll-like receptor 2 ; Toll-like receptor 4
    Language English
    Dates of publication 2017-0223
    Size p. 789-800.e10.
    Publishing place Elsevier Inc.
    Document type Article
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2017.01.039
    Database NAL-Catalogue (AGRICOLA)

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  4. Article ; Online: Type I interferon-mediated autoinflammation due to DNase II deficiency

    Mathieu P. Rodero / Alessandra Tesser / Eva Bartok / Gillian I. Rice / Erika Della Mina / Marine Depp / Benoit Beitz / Vincent Bondet / Nicolas Cagnard / Darragh Duffy / Michael Dussiot / Marie-Louise Frémond / Marco Gattorno / Flavia Guillem / Naoki Kitabayashi / Fabrice Porcheray / Frederic Rieux-Laucat / Luis Seabra / Carolina Uggenti /
    Stefano Volpi / Leo A H. Zeef / Marie-Alexandra Alyanakian / Jacques Beltrand / Anna Monica Bianco / Nathalie Boddaert / Chantal Brouzes / Sophie Candon / Roberta Caorsi / Marina Charbit / Monique Fabre / Flavio Faletra / Muriel Girard / Annie Harroche / Evelyn Hartmann / Dominique Lasne / Annalisa Marcuzzi / Bénédicte Neven / Patrick Nitschke / Tiffany Pascreau / Serena Pastore / Capucine Picard / Paolo Picco / Elisa Piscianz / Michel Polak / Pierre Quartier / Marion Rabant / Gabriele Stocco / Andrea Taddio / Florence Uettwiller / Erica Valencic / Diego Vozzi / Gunther Hartmann / Winfried Barchet / Olivier Hermine / Brigitte Bader-Meunier / Alberto Tommasini / Yanick J. Crow

    Nature Communications, Vol 8, Iss 1, Pp 1-

    2017  Volume 15

    Abstract: Nucleic acid sensing is important to ensure that an innate immune response is only mounted against microbial nucleic acid. Here, the authors identify loss-of-function mutations in the DNASE2 gene that cause type I interferon-mediated autoinflammation due ...

    Abstract Nucleic acid sensing is important to ensure that an innate immune response is only mounted against microbial nucleic acid. Here, the authors identify loss-of-function mutations in the DNASE2 gene that cause type I interferon-mediated autoinflammation due to enhanced systemic interferon signaling.
    Keywords Science ; Q
    Language English
    Publishing date 2017-12-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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