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  1. Article ; Online: Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.

    de Jesus, Adriana A / Brehm, Anja / VanTries, Rachel / Pillet, Pascal / Parentelli, Anne-Sophie / Montealegre Sanchez, Gina A / Deng, Zuoming / Paut, Isabelle Koné / Goldbach-Mansky, Raphaela / Krüger, Elke

    The Journal of allergy and clinical immunology

    2019  Volume 143, Issue 5, Page(s) 1939–1943.e8

    MeSH term(s) Chaperonins/genetics ; Child ; Female ; Humans ; Immunologic Deficiency Syndromes/genetics ; Interferons ; Molecular Chaperones/genetics ; Mutation ; Proteasome Endopeptidase Complex/genetics
    Chemical Substances Molecular Chaperones ; PSMG2 protein, human ; Interferons (9008-11-1) ; Proteasome Endopeptidase Complex (EC 3.4.25.1) ; Chaperonins (EC 3.6.1.-)
    Language English
    Publishing date 2019-01-18
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2018.12.1012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Cardiovascular outcome in adult-onset Kawasaki disease.

    Peter, Elise / Fraison, Jean-Baptiste / Harbaoui, Brahim / Paut, Isabelle Kone / Dauphin, Claire / Gomard-Mennesson, Emeline / Hervier, Baptiste / De Boysson, Hubert / Varron, Loig / Keraen, Jérémy / Pugnet, Grégory / Gobert, Delphine / Bachmeyer, Claude / Humbert, Sébastien / Landron, Cédric / Roblot, Pascal / Cathébras, Pascal / Gerfaud-Valentin, Mathieu / Weber, Emmanuelle /
    Jamilloux, Yvan / Fain, Olivier / Seve, Pascal

    Autoimmunity reviews

    2021  Volume 20, Issue 9, Page(s) 102886

    MeSH term(s) Adult ; Cardiovascular System ; Humans ; Immunoglobulins, Intravenous ; Infant ; Mucocutaneous Lymph Node Syndrome/complications ; Mucocutaneous Lymph Node Syndrome/diagnosis
    Chemical Substances Immunoglobulins, Intravenous
    Language English
    Publishing date 2021-07-05
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 2144145-5
    ISSN 1873-0183 ; 1568-9972
    ISSN (online) 1873-0183
    ISSN 1568-9972
    DOI 10.1016/j.autrev.2021.102886
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part I: Overall methodology and clinical characterisation.

    Ruperto, Nicolino / Ozen, Seza / Pistorio, Angela / Dolezalova, Pavla / Brogan, Paul / Cabral, David A / Cuttica, Ruben / Khubchandani, Raju / Lovell, Daniel J / O'Neil, Kathleen M / Quartier, Pierre / Ravelli, Angelo / Iusan, Silvia M / Filocamo, Giovanni / Magalhães, Claudia Saad / Unsal, Erbil / Oliveira, Sheila / Bracaglia, Claudia / Bagga, Arvind /
    Stanevicha, Valda / Manzoni, Silvia Magni / Pratsidou, Polyxeni / Lepore, Loredana / Espada, Graciela / Kone-Paut, Isabella / Paut, Isabelle Kone / Zulian, Francesco / Barone, Patrizia / Bircan, Zelal / Maldonado, Maria del Rocio / Russo, Ricardo / Vilca, Iris / Tullus, Kjell / Cimaz, Rolando / Horneff, Gerd / Anton, Jordi / Garay, Stella / Nielsen, Susan / Barbano, Giancarlo / Martini, Alberto

    Annals of the rheumatic diseases

    2010  Volume 69, Issue 5, Page(s) 790–797

    Abstract: Objectives: To report methodology and overall clinical, laboratory and radiographic characteristics for Henoch-Schönlein purpura (HSP), childhood polyarteritis nodosa (c-PAN), c-Wegener granulomatosis (c-WG) and c-Takayasu arteritis (c-TA) ... ...

    Abstract Objectives: To report methodology and overall clinical, laboratory and radiographic characteristics for Henoch-Schönlein purpura (HSP), childhood polyarteritis nodosa (c-PAN), c-Wegener granulomatosis (c-WG) and c-Takayasu arteritis (c-TA) classification criteria.
    Methods: The preliminary Vienna 2005 consensus conference, which proposed preliminary criteria for paediatric vasculitides, was followed by a EULAR/PRINTO/PRES - supported validation project divided into three main steps. Step 1: retrospective/prospective web-data collection for HSP, c-PAN, c-WG and c-TA, with age at diagnosis <or=18 years. Step 2: blinded classification by consensus panel of a subgroup of 280 cases (128 difficult cases, 152 randomly selected) enabling expert diagnostic verification. Step 3: Ankara 2008 Consensus Conference and statistical evaluation (sensitivity, specificity, area under the curve, kappa-agreement) using as 'gold standard' the final consensus classification or original treating physician diagnosis.<br />Results: A total of 1183/1398 (85%) samples collected were available for analysis: 827 HSP, 150 c-PAN, 60 c-WG, 87 c-TA and 59 c-other. Prevalence, signs/symptoms, laboratory, biopsy and imaging reports were consistent with the clinical picture of the four c-vasculitides. A representative subgroup of 280 patients was blinded to the treating physician diagnosis and classified by a consensus panel, with a kappa-agreement of 0.96 for HSP (95% CI 0.84 to 1), 0.88 for c-WG (95% CI 0.76 to 0.99), 0.84 for c-TA (95% CI 0.73 to 0.96) and 0.73 for c-PAN (95% CI 0.62 to 0.84), with an overall kappa of 0.79 (95% CI 0.73 to 0.84).
    Conclusion: EULAR/PRINTO/PRES propose validated classification criteria for HSP, c-PAN, c-WG and c-TA, with substantial/almost perfect agreement with the final consensus classification or original treating physician diagnosis.
    MeSH term(s) Adolescent ; Biopsy ; Child ; Delphi Technique ; Granulomatosis with Polyangiitis/classification ; Granulomatosis with Polyangiitis/diagnosis ; Humans ; International Cooperation ; Internet ; Polyarteritis Nodosa/classification ; Polyarteritis Nodosa/diagnosis ; Purpura, Schoenlein-Henoch/classification ; Purpura, Schoenlein-Henoch/diagnosis ; Reproducibility of Results ; Takayasu Arteritis/classification ; Takayasu Arteritis/diagnosis
    Language English
    Publishing date 2010-05
    Publishing country England
    Document type Consensus Development Conference ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 7090-7
    ISSN 1468-2060 ; 0003-4967
    ISSN (online) 1468-2060
    ISSN 0003-4967
    DOI 10.1136/ard.2009.116624
    Database MEDical Literature Analysis and Retrieval System OnLINE

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