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

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2017年 / 37卷

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

页码：S72 / S73

页数：2

共 50 条

[1] Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community
Simon, Amos J.
Golan, Adi Cohen
Lev, Atar
Stauber, Tali
Barel, Ortal
Somekh, Ido
Klein, Christoph
AbuZaitun, Omar
Eyal, Eran
Kol, Nitzan
Unal, Ekrem
Amariglio, Ninette
Rechavi, Gideon
Somech, Raz
CLINICAL IMMUNOLOGY, 2020, 214
[2] Whole exome sequencing for the identification of primary immunodeficiencies in a national cohort of children with bacterial sepsis
Truck, J.
Borghesi, A.
Agyeman, P.
Asgari, S.
Aebi, C.
Berger, C.
Fellay, J.
Schlapbach, L.
SWISS MEDICAL WEEKLY, 2017, 147 : 42S - 42S
[3] IDENTIFICATION OF GENETIC DEFECTS IN PRIMARY IMMUNODEFICIENCIES BY WHOLE EXOME SEQUENCING
Christiansen, Mette
Jensen, Jens Magnus B.
Veirum, Jens E.
Moller, Bjarne K.
TISSUE ANTIGENS, 2014, 84 (01): : 9 - 9
[4] Identification of innate immunodeficiencies by whole exome sequencing
Mogensen, Trine
Christiansen, Mette
Kofod-Olsen, Emil
Veirum, Jens
Herlin, Troels
Orntoft, Torben
Larsen, Carsten
Ostergaard, Lars
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2013, 174 : 24 - 24
[5] Whole exome sequencing in patients with undiagnosed ataxia in a Korean population
Kim, M.
Kim, A. R.
Kim, J. S.
Park, J. K.
Youn, J.
Ahn, J. H.
Choi, I.
Song, J.
Lee, C.
Kim, N. S.
Kim, N. K. D.
Park, W. Y.
Cho, J. W.
MOVEMENT DISORDERS, 2020, 35 : S18 - S19
[6] Whole exome sequencing reveals novel mutations in a cohort of undiagnosed patients with multiple malformation syndromes
Kritioti, E.
Nicolaou, N.
Alexandrou, A.
Papaevripidou, I.
Theodosiou, A.
Christophidou-Anastasiadou, V.
Tanteles, G. A.
Sismani, C.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1533 - 1534
[7] Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies
Chou, Janet
Ohsumi, Toshiro K.
Geha, Raif S.
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY, 2012, 12 (06) : 623 - 628
[8] Whole Exome Sequencing for Primary Immunodeficiencies - Experience From the Asian Primary Immunodeficiency (APID) Network
Lee, P.
Yang, J.
Liew, W. K.
Latiff, A. H.
Thong, M. K.
Lee, A. C. W.
Jirapongsananuruk, O.
Al-Saad, K. K.
Kechout, N.
Chan, K. W.
Chong, C. Y.
Lee, T. L.
Ho, H. K.
Tu, W. W.
Yang, W. L.
Lau, Y. L.
JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S154 - S154
[9] UTILITY OF DISEASE-TARGETED PANELS AND WHOLE EXOME SEQUENCING FOR THE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES
Lagerstedt, Susan A.
Abraham, Roshini
JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 264 - 265
[10] Whole Exome Sequencing in a Cardiovascular Cohort Identifies Previously Undiagnosed Monogenic Cardiovascular Diseases
Abdulrahim, Jawan W.
Kwee, Lydia C.
Alenezi, Fawaz
Baras, Aris
Ajayi, Teminioluwa
Holley, Christopher L.
McGarrah, Robert W.
Daubert, James P.
Truby, Lauren K.
Vemulapalli, Sreekanth
Wang, Andrew
Shah, Svati H.
CIRCULATION, 2019, 140

← 1 2 3 4 5 →