Primary Immunodeficiencies in Chile: Whole Exome Sequencing in a Cohort of Chilean Patients with Undiagnosed PIDs

被引:0
|
作者
Cecilia Poli, M. [1 ,2 ,3 ,4 ]
Chinn, Ivan K. [1 ,5 ]
Bostwick, Bret [1 ,5 ,6 ]
Vogel, Tiphanie [1 ,5 ]
Forbes, Lisa R. [1 ,5 ]
Nicholas, Sarah K. [1 ,5 ]
Rider, Nicholas L. [1 ,5 ]
Mace, Emily M. [1 ]
Watkin, Levi B. [1 ]
Cao, Tram [1 ]
King, Alejandra [2 ,3 ,4 ,9 ]
Lagos, Macarena [7 ]
Talesnik, Eduardo [8 ]
Borzutzky, Arturo [8 ]
Navarrete, Carmen Luz [13 ]
Gonzalez, Benito [7 ,9 ]
Maria Vinet, Ana [10 ]
Silva, Evelyn [2 ,3 ,4 ]
Llorente, Marcela [2 ,3 ,4 ]
Aird, Alejandra [2 ,3 ,4 ]
Norambuena, Ximena [11 ]
Quezada, Arnoldo [11 ]
Barria, Raul [12 ]
Benavides, Felipe [2 ,3 ,4 ]
Inostroza, Jaime [10 ]
Vial, Pablo [2 ,3 ,4 ]
Sorensen, Ricardo [14 ]
Coban-Akdemir, Zeynep H.
Jhangiani, Shalini N.
Muzny, Donna M.
Gibbs, Richard
Lupski, James R. [1 ,6 ]
Orange, Jordan S. [1 ,5 ]
机构
[1] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[2] Univ Desarrollo, Concepcion, Chile
[3] Clin Alemana Santiago, Vitacura, Chile
[4] Texas Childrens Hosp, Div Pediat Immunol Allergy Rheumatol, Houston, TX 77030 USA
[5] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[6] Clin Las Condes, Santiago, Chile
[7] Univ Catolica Chile, Santiago, Chile
[8] Hosp Ninos Luis Calvo Mackenna, Santiago, Chile
[9] Univ La Frontera, Temuco, Chile
[10] Hosp Exequiel Gonzalez Cortes, Santiago, Chile
[11] Hosp Concepcion, Concepcion, Chile
[12] Hosp Roberto del Rio, Santiago, Chile
[13] Louisiana State Univ, Hlth Sci Ctr, Jeffrey Modell Ctr Primary Immunodeficiencies, Sect Allergy Immunol, New Orleans, LA USA
[14] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
关键词
D O I
暂无
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
PO - 177
引用
收藏
页码:S72 / S73
页数:2
相关论文
共 50 条
  • [21] Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review
    Hemmo A. F. Yska
    Kim Elsink
    Taco W. Kuijpers
    Geert W. J. Frederix
    Mariëlle E. van Gijn
    Joris M. van Montfrans
    Journal of Clinical Immunology, 2019, 39 : 577 - 591
  • [22] Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing
    Reuter, Chloe M.
    Kohler, Jennefer N.
    Bonner, Devon
    Zastrow, Diane
    Fernandez, Liliana
    Dries, Annika
    Marwaha, Shruti
    Davidson, Jean
    Brokamp, Elly
    Herzog, Matthew
    Hong, Joyce
    Macnamara, Ellen
    Rosenfeld, Jill A.
    Schoch, Kelly
    Spillmann, Rebecca
    Loscalzo, Joseph
    Krier, Joel
    Stoler, Joan
    Sweetser, David
    Palmer, Christina G. S.
    Phillips, John A.
    Shashi, Vandana
    Adams, David A.
    Yang, Yaping
    Ashley, Euan A.
    Fisher, Paul G.
    Mulvihill, John J.
    Bernstein, Jonathan A.
    Wheeler, Matthew T.
    JOURNAL OF GENETIC COUNSELING, 2019, 28 (06) : 1107 - 1118
  • [23] Using the whole exome sequencing (WES) approach for better diagnosis and clinical management in primary Immuno-deficiencies (PIDs) in Israel
    Simon, Amos J.
    Lev, Atar
    Cohen-Golan, Adi
    Somech, Raz
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 415 - 415
  • [24] WHOLE EXOME SEQUENCING IN PRIMARY SEVERE HYPERTRIGLYCERIDEMIA
    Tada, Hayato
    Kawashiri, Masa-Aki
    Nohara, Atsushi
    Inazu, Akihiro
    Mabuchi, Hiroshi
    Yamagishi, Masakazu
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2016, 67 (13) : 1974 - 1974
  • [25] Whole exome sequencing in primary severe hypertriglyceridemia
    Tada, H.
    Kawashiri, M.
    Nohara, A.
    Inazu, A.
    Mabuchi, H.
    Yamagishi, M.
    EUROPEAN HEART JOURNAL, 2016, 37 : 10 - 10
  • [26] Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
    Shickh, Salma
    Salazar, Mariana Gutierrez
    Zakoor, Kathleen-Rose
    Lazaro, Conxi
    Gu, Jessica
    Goltz, Jamie
    Kleinman, Dakota
    Noor, Abdul
    Khalouei, Sam
    Mighton, Chloe
    Reble, Emma
    Kodida, Rita
    Bombard, Yvonne
    DiTroia, Stephanie
    Baxter, Samantha
    Watkins, Nicholas
    Care, Melanie
    Adler, Arnon
    Horsburgh, Sheri
    Morar, Oana
    Murphy, Jillian
    Nevay, Dayna-Lynn
    Szybowska, Marta
    Aronson, Melyssa
    Panchal, Seema
    Godoy, Ruth
    Holter, Spring
    Armel, Susan Randall
    Semotiuk, Kara
    Elser, Christine
    Kim, Raymond H.
    Chitayat, David
    So, Joyce
    Faghfoury, Hanna
    Silver, Josh
    Morel, Chantal F.
    Lerner-Ellis, Jordan
    JOURNAL OF MEDICAL GENETICS, 2021, 58 (04) : 275 - 283
  • [27] Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia
    Wu, Rui
    Chen, Wen -Tian
    Dou, Wei-Kang
    Zhou, Hui-Min
    Shi, Ming
    HELIYON, 2024, 10 (11)
  • [28] Whole exome sequencing of a cohort of Polish patients with retinal disorders - NeuStemGen project
    Szymanczak, R.
    Lyszkiewicz, P.
    Wasowska, A.
    Matczynska, E.
    Krysa, W.
    Kaminska, K.
    Suchecka, E. Ewa
    Kosakowski, J.
    Jurkowska, M.
    Palucha, A.
    Jedrzejowska, M.
    Teper, S.
    Wylegala, E.
    Pius-Sadowska, E.
    Machalinska, A.
    Boguszewska-Chachulska, A. M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 64 - 65
  • [29] Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China
    Liu, Yang
    Zhang, Jin-Jin
    Piao, Shun-Yu
    Shen, Ren-Juan
    Ma, Ya
    Xue, Zhong-Qi
    Zhang, Wen
    Liu, Juan
    Jin, Zi-Bing
    Zhuang, Wen-Juan
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9
  • [30] Whole-Exome Sequencing of an Exceptional Longevity Cohort
    Nygaard, Haakon B.
    Erson-Omay, E. Zeynep
    Wu, Xiujuan
    Kent, Brianne A.
    Bernales, Cecily Q.
    Evans, Daniel M.
    Farrer, Matthew J.
    Vilarino-Guell, Carles
    Strittmatter, Stephen M.
    JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES, 2019, 74 (09): : 1386 - 1390