Clinical impact of a targeted pharmacogenomic assessment within a cohort of individuals with suspected inborn errors of immunity

被引:0
|
作者
Similuk, Morgan [1 ]
Yan, Jia [1 ]
Sissung, Tristan [2 ]
Ghosh, Rajarshi [1 ]
Cao, Wenija [2 ]
Lack, Justin [2 ]
Manolio, Teri [3 ]
Biesecker, Leslie [3 ]
Figg, William [2 ]
Holland, Steven [1 ]
Walkiewicz-Yvon, Magdalena [1 ]
机构
[1] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA
[2] NCI, NIH, Bethesda, MD 20892 USA
[3] NHGRI, NIH, Bethesda, MD 20892 USA
关键词
D O I
10.1016/j.gim.2022.01.615
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
OP059
引用
收藏
页码:S385 / S385
页数:1
相关论文
共 50 条
  • [41] Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
    Vorsteveld, Emil E.
    Van der Made, Caspar I.
    Smeekens, Sanne P.
    Schuurs-Hoeijmakers, Janneke H.
    Astuti, Galuh
    Diepstra, Heleen
    Gilissen, Christian
    Hoenselaar, Evelien
    Janssen, Alice
    van Roozendaal, Kees
    Sikkema-van Engelen, Jettie
    Steyaert, Wouter
    Weiss, Marjan M.
    Yntema, Helger G.
    Mantere, Tuomo
    Alzahrani, Mofareh S.
    van Aerde, Koen
    Derfalvi, Beata
    Faqeih, Eissa Ali
    Henriet, Stefanie S. V.
    van Hoof, Elise
    Idressi, Eman
    Issekutz, Thomas B.
    Jongmans, Marjolijn C. J.
    Keski-Filppula, Riikka
    Krapels, Ingrid
    te Loo, Maroeska
    Mulders-Manders, Catharina M.
    ten Oever, Jaap
    Potjewijd, Judith
    Sarhan, Nora Tarig
    Slot, Marjan C.
    Terhal, Paulien A.
    Thijs, Herman
    Vandersteen, Anthony
    Vanhoutte, Els K.
    van de Veerdonk, Frank
    van Well, Gijs
    Netea, Mihai G.
    Simons, Annet
    Hoischen, Alexander
    CLINICAL IMMUNOLOGY, 2024, 268
  • [42] Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study
    Fan, Huifeng
    Yang, Zhiyong
    Wu, Yuhui
    Lu, Xiulan
    Li, Tian
    Lu, Xuyang
    Lu, Gen
    He, Liming
    Lu, Guoping
    Huang, Li
    FRONTIERS IN IMMUNOLOGY, 2025, 16
  • [43] Assessment and Characterization of Tbet plus B Cells in Various Inborn Errors of Immunity (IEIs)
    Ujhazi, Boglarka
    Nomula, Kranthi
    Yilmaz, Melis
    Potts, David Evan
    Franson, Brady
    Csomos, Krisztian
    Cancro, Michael P.
    Kumanovics, Attila
    Bacsi, Attila
    Walter, Jolan
    CLINICAL IMMUNOLOGY, 2024, 262
  • [44] Evaluating clinical factors for improved utilization of targeted gene panel testing for inborn errors of immunity in a US tertiary care pediatric hospital
    Udomkittivorakul, Natsumon
    Cooper, Megan
    Kitcharoensakkul, Maleewan
    CLINICAL IMMUNOLOGY, 2023, 250 : 39 - 39
  • [45] Trio-based sequencing in patients with sporadic inborn errors of immunity: a retrospective cohort study
    van der Made, Caspar
    Hebert, Anne
    Simons, Annet
    Schuurs-Hoeijmakers, Janneke
    van Rijssen, Esther
    van Reijmersdal, Simon
    Zonneveld-Huijssoon, Evelien
    Henriet, Stefanie
    Van Zelst-Stams, Wendy
    Koolen, David
    Leenders, Erika
    Janssen, Etienne
    Santen, Gijs
    de Munnik, Sonja
    Kersten, Simone
    Koenen, Hans
    Netea, Mihai Gheorghe
    Smeets, Ruben
    van de Veerdonk, Frank
    Hoischen, Alexander
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 437 - 437
  • [46] Spectrum of Inborn errors of immunity in a cohort of 90 patients presenting with complications to BCG vaccination in India
    Yadav, Reetika Malik
    Dalvi, Aparna
    Gupta, Maya
    Bargir, Umair Ahmed
    Shabrish, Snehal
    Aluri, Jahnavi
    Kulkarni, Manasi
    Hule, Gouri
    Kambli, Priyanka
    Setia, Priyanka
    Jodhawat, Neha
    Taur, Prasad
    Desai, Mukesh
    Madkaikar, Manisha Rajan
    SCANDINAVIAN JOURNAL OF IMMUNOLOGY, 2021, 93 (05)
  • [47] The Impact of Immunoglobulin Replacement Therapy on Antibiotic Need in Adult Patients with Inborn Errors of Immunity
    Karabiber, Esra
    HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI, 2024, 62 (04): : 235 - 242
  • [48] LABORATORY MEDICINE AND PATHOLOGY - INITIAL ASSESSMENT OF INFANTS AND CHILDREN WITH SUSPECTED INBORN-ERRORS OF METABOLISM
    LINDOR, NM
    KARNES, PS
    MAYO CLINIC PROCEEDINGS, 1995, 70 (10) : 987 - 988
  • [49] The impact of Treosulfan-based conditioning for inborn errors of immunity: Is dose monitoring crucial?
    Ersoy, Gizem Zengin
    Cipe, Funda
    Fisgin, Tunc
    Aksoy, Basak Adakli
    Oner, Ozlem Basoglu
    Hashemi, Nazli
    Aydogdu, Selime
    Erdem, Melek
    Dikme, Guercan
    Murat, Koza
    Bozkurt, Ceyhun
    CLINICAL TRANSPLANTATION, 2023, 37 (09)
  • [50] Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis
    Ma, Cindy S.
    Freeman, Alexandra F.
    Fleisher, Thomas A.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2023, 11 (06): : 1579 - 1591