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
  • [41] IDENTIFICATION OF GENETIC VASCULOPATHIES AMONG A COHORT OF PRIMARY CNS VASCULITIS USING WHOLE EXOME SEQUENCING
    Sharma, J.
    Srivastava, M. V. P.
    Garg, A.
    Sharma, M.
    Bhatia, R.
    Singh, M.
    Pandit, A. K.
    Singh, R.
    Rajan, R.
    Gupta, A.
    Agarwal, A.
    Vy, V.
    INTERNATIONAL JOURNAL OF STROKE, 2022, 17 (3_SUPPL) : 185 - 185
  • [42] Complicated Mycobacterial Diseases in Patients with Primary Immunodeficiencies (PIDS) from One Argentinean Centre
    Gomez Raccio, A.
    Di Giovanni, D.
    Seminario, A.
    Caldirola, M. S.
    Comas, D.
    Cerqueiro, C.
    Squassi, I.
    Gaillard, M. I.
    Bezrodnik, L.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S335 - S335
  • [43] Whole-exome sequencing for the identification of genetic vasculopathies among a cohort of primary CNS vasculitis
    Sharma, Jyoti
    Srivastava, M. V. Padma
    Garg, Ajay
    Sharma, Meher
    Bhatia, Rohit
    Singh, Mamta
    Pandit, Awadh
    Singh, Rajesh
    Rajan, Roopa
    Gupta, Anu
    Agarwal, Ayush
    Vy, Vishnu
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
  • [44] Whole Exome Sequencing of Patients with Adult-Onset Evans Syndrome: A Cohort of 80 Patients
    Crickx, Etienne
    Fadlallah, Jehane
    Cheminant, Morgane
    Rosain, Jeremie
    Dion, Jeremie
    Malphettes, Marion
    Boutboul, David
    Gourguechon, Clement
    Ebbo, Mikael
    Ronchetti, Anne Marie
    Moulinet, Thomas
    Gobert, Delphine
    Hadjadj, Jerome
    Graveleau, Julie
    Stolzenberg, Marie-Claude
    Godeau, Bertrand
    Galicier, Lionel
    Viallard, Jean-Francois
    Audia, Sylvain
    Oksenhendler, Eric
    Fieschi, Claire
    Hermine, Olivier
    Mahevas, Matthieu
    Michel, Marc
    Laucat, Frederic Rieux
    BLOOD, 2023, 142
  • [45] Whole exome sequencing in patients with congenital cataracts
    Liskova, P.
    ACTA OPHTHALMOLOGICA, 2015, 93
  • [46] Whole-exome sequencing in HHT patients
    Giraud, S.
    Lesca, G.
    Auboiroux, C.
    Calender, A.
    Bailly, S.
    Dupuis-Girod, S.
    ANGIOGENESIS, 2018, 21 (01) : 149 - 149
  • [47] Whole Exome Sequencing in Patients With Mullerian Aplasia
    Falkenstrom, Alli T.
    Chorich, Lynn P.
    Kim, Hyung-Goo
    Sullivan, Megan E.
    Knight, James R.
    Taylor, Hugh S.
    Choi, Justin
    Phillips, John A., III
    Layman, Lawrence C.
    REPRODUCTIVE SCIENCES, 2015, 22 : 362A - 363A
  • [48] Whole exome sequencing in patients with congenital myopathies
    Zaharieva, I. T.
    Colombo, I.
    Sframeli, M.
    Sigurosson, J. H.
    Feng, L.
    Phadke, R.
    Sewry, C. A.
    Morgan, J. E.
    Muntoni, F.
    NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 895 - 895
  • [49] Whole exome sequencing in patients with familial polyposis
    Garcia-Valles, Paula
    Perez-Garcia, Jesica
    Iglesias-Corral, Diego
    Antonio Corchete, Luis
    Blanco Munez, Oscar Javier
    Vidal-Tocino, Rosario
    Herrero, Ana-Belen
    Gonzalez-Sarmiento, Rogelio
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 265 - 265
  • [50] ADVANTAGES OF WHOLE EXOME SEQUENCING FOR PATIENTS WITH EPILEPSY
    Malphrus, A. D.
    EPILEPSIA, 2015, 56 : 150 - 150