Newborn Screening for Severe Combined Immunodeficiency (SCID) Leads to Early Identification of Ataxia-Telangiectasia (AT) Complicated By Neutropenia: A Case Report

被引:1
|
作者
Shankar, Tara [1 ]
Chen, Xiaohua [2 ]
Szabolcs, Paul [2 ]
Vander Lugt, Mark T. [2 ]
Chong, Hey J. [1 ]
机构
[1] UPMC, Childrens Hosp Pittsburgh, Div Allergy & Immunol, Pittsburgh, PA USA
[2] UPMC, Childrens Hosp Pittsburgh, Div Blood & Marrow Transplant & Cellular Therapie, Pittsburgh, PA USA
关键词
D O I
10.1016/j.jaci.2014.12.975
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
40
引用
收藏
页码:AB13 / AB13
页数:1
相关论文
共 50 条
  • [1] Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
    Laura Folgori
    Alessia Scarselli
    Giulia Angelino
    Francesca Ferrari
    Antonio Antoccia
    Luciana Chessa
    Andrea Finocchi
    Italian Journal of Pediatrics, 36
  • [2] Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
    Folgori, Laura
    Scarselli, Alessia
    Angelino, Giulia
    Ferrari, Francesca
    Antoccia, Antonio
    Chessa, Luciana
    Finocchi, Andrea
    ITALIAN JOURNAL OF PEDIATRICS, 2010, 36
  • [3] The Case for Mandatory Newborn Screening for Severe Combined Immunodeficiency (SCID)
    Gaspar, H. B.
    Hammarstrom, L.
    Mahlaoui, N.
    Borte, M.
    Borte, S.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (04) : 393 - 397
  • [4] The Case for Mandatory Newborn Screening for Severe Combined Immunodeficiency (SCID)
    H. B. Gaspar
    L. Hammarström
    N. Mahlaoui
    M. Borte
    S. Borte
    Journal of Clinical Immunology, 2014, 34 : 393 - 397
  • [5] An Atypical Severe Combined Immunodeficiency (SCID) Case Diagnosis Complicated by Alternative Care in the Era of Newborn Screening (NBS) for SCID
    Alberdi, Taylor
    Castro-Wagner, Johana B.
    Patel, Bhumika
    Joychan, Sonia
    Lindsey, David
    Laham, Frederico R.
    Csomos, Krisztian
    Ujhazi, Boglarka
    Duff, Carla M.
    Trotter, Jessica
    Bleesing, Jack J.
    Kumanovics, Attila
    Chang, Yenhui
    Hale, Jamie H.
    Sriaroon, Panida
    Hale, Greg
    Oshrine, Benjamin R.
    Notarangelo, Luigi
    Abraham, Roshini S.
    Comeau, Anne Marie
    Petrovic, Aleksandra
    Leiding, Jennifer W.
    Walter, Jolan E.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 139 (02) : AB18 - AB18
  • [6] Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID)
    Barmettler, Sara
    Coffey, Kara
    Smith, Matthew J.
    Chong, Hey Jin
    Pozos, Tamara C.
    Seroogy, Christine M.
    Walter, Jolan
    Abraham, Roshini S.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2021, 9 (02): : 723 - +
  • [7] Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
    van der Burg, Mirjam
    Mahlaoui, Nizar
    Gaspar, Hubert Bobby
    Pai, Sung-Yun
    FRONTIERS IN PEDIATRICS, 2019, 7
  • [8] Ataxia-telangiectasia complicated with Hodgkin's lymphoma: A case report
    Li, Xiao-Ling
    Wang, Yi-Lin
    WORLD JOURNAL OF CLINICAL CASES, 2020, 8 (11) : 2387 - 2391
  • [9] LINKING NEWBORN SEVERE COMBINED IMMUNODEFICIENCY (SCID) SCREENING WITH TARGETED EXOME SEQUENCING: A CASE REPORT
    Patel, D.
    Yu, H.
    Wong, L. C.
    Seeborg, F. O.
    Rider, N.
    Martinez, C.
    Hanson, I. C.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2015, 115 (05) : A26 - A26
  • [10] Evaluation of newborn screening for severe combined immunodeficiency (SCID)
    Nightingale, Rebecca
    Cavanagh, Christine
    Gennery, Andrew R.
    BRITISH JOURNAL OF GENERAL PRACTICE, 2021, 71 (711): : 456 - 457