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  1. Article ; Online: Arginine methylation catalyzed by PRMT1 is required for B cell activation and differentiation

    Simona Infantino / Amanda Light / Kristy O’Donnell / Vanessa Bryant / Danielle T. Avery / Michael Elliott / Stuart G. Tangye / Gabrielle Belz / Fabienne Mackay / Stephane Richard / David Tarlinton

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

    2017  Volume 12

    Abstract: PRMT1 is an arginine methyltransferase involved in a variety of cell functions. Here the authors delete PRMT1 specifically in mature B cells to show the importance of arginine methylation for B cell proliferation, differentiation and survival, and ... ...

    Abstract PRMT1 is an arginine methyltransferase involved in a variety of cell functions. Here the authors delete PRMT1 specifically in mature B cells to show the importance of arginine methylation for B cell proliferation, differentiation and survival, and thereby for humoral immunity.
    Keywords Science ; Q
    Language English
    Publishing date 2017-10-01T00:00:00Z
    Publisher Nature Portfolio
    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)

    Full text online

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  3. Article: Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

    Kuehn, Hye Sun / Anna Huttenlocher / Bernice Lo / Bogdan Dumitriu / Cathleen A. Frein / Christine M. Seroogy / Christopher Koh / Danielle T. Avery / Dat Q. Tran / David Kleiner / David M. Frucht / Elissa K. Deenick / Eric Meffre / Gulbu Uzel / Helen C. Su / Jason Hughes / Jean-Nicolas Schickel / Jennifer Stoddard / Joao B. Oliveira /
    Joshua McElwee / Julie E. Niemela / Kenneth N. Olivier / Les R. Folio / Luigi D. Notarangelo / Michael J. Lenardo / Phillip Scheinberg / Stefania Pittaluga / Steven M. Holland / Stuart G. Tangye / Susan Price / Theo Heller / Thomas A. Fleisher / V. Koneti Rao / Weiming Ouyang / Yajesh Rampertaap / Yu Zhang

    Science. 2014 Sept. 26, v. 345, no. 6204

    2014  

    Abstract: Beware of T cells that don't know how to stop During an infection, T cells divide extensively and secrete proteins that can severely damage tissues. But T cells know when to stop—they express proteins on their surface such as CTLA4, which put on the ... ...

    Abstract Beware of T cells that don't know how to stop During an infection, T cells divide extensively and secrete proteins that can severely damage tissues. But T cells know when to stop—they express proteins on their surface such as CTLA4, which put on the brakes. Kuehn et al. now report genetic evidence of the importance of CTLA4 in humans (see the Perspective by Rieux-Laucat and Casanova). They identified six patients with mutations in one copy of CTLA4 . Patients presented with symptoms of an overzealous immune response, with immune cells infiltrating their organs. The findings support the idea that CTLA4 tells the immune system when enough is enough. Science , this issue p. 1623; see also p. 1560
    Keywords germ cells ; heterozygosity ; humans ; immune response ; mutation ; patients ; proteins ; tissues ; T-lymphocytes
    Language English
    Dates of publication 2014-0926
    Size p. 1623-1627.
    Publishing place American Association for the Advancement of Science
    Document type Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.1255904
    Database NAL-Catalogue (AGRICOLA)

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