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The Ever-Increasing Array of Novel Inborn Errors of Immunity : an Interim Update by the IUIS Committee

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اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • Contributors:
      Children's Hospital; HUS Children and Adolescents; Clinicum; University of Helsinki; Helsinki University Hospital Area
    • بيانات النشر:
      SPRINGER/PLENUM PUBLISHERS
    • الموضوع:
      2021
    • Collection:
      Helsingfors Universitet: HELDA – Helsingin yliopiston digitaalinen arkisto
    • نبذة مختصرة :
      The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects. ; Peer reviewed
    • File Description:
      application/pdf
    • Relation:
      The members of the Inborn Errors of Immunity committee would like to thank the International Union of Immunological Societies for funding, as well as CSL Behring, Baxalta, and Shire/Takeda for providing educational grants to enable us to compile this interim update to novel causes of immune diseases. This work was also supported in part by the Intramural Research Program of the NIAID, NIH. SGT is supported by an Investigator Grant (Level 3) awarded by the National Health and Medical Research Council of Australia. IM is a senior clinical investigator of FWO Vlaanderen (EBD-D8974-FKM).; Tangye , S G , Al-Herz , W , Bousfiha , A , Cunningham-Rundles , C , Franco , J L , Holland , S M , Klein , C , Morio , T , Oksenhendler , E , Picard , C , Puel , A , Puck , J , Seppänen , M R J , Somech , R , Su , H C , Sullivan , K E , Torgerson , T R & Meyts , I 2021 , ' The Ever-Increasing Array of Novel Inborn Errors of Immunity : an Interim Update by the IUIS Committee ' , Journal of Clinical Immunology , vol. 41 , no. 3 , pp. 666-679 . https://doi.org/10.1007/s10875-021-00980-1; ORCID: /0000-0001-9733-3650/work/91929268; e9dc5cdc-f1bc-46d8-b4da-ded5d776541c; http://hdl.handle.net/10138/328826; 000618946900001
    • Rights:
      cc_by ; openAccess ; info:eu-repo/semantics/openAccess
    • الرقم المعرف:
      edsbas.864E3283