Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity

被引：0
|
作者：
Castano-Jaramillo, Lina [1 ]
Rivas Larrauri, Francisco [2 ]
Scheffler-Mendoza, Selma Cecilia [2 ]
Gutierrez Hernandez, Alonso [2 ]
Rajme, Sandra [3 ]
Rodriguez-Lozano, Ana Luisa [2 ]
Yamazaki-Nakashimada, Marco Antonio [4 ]
Espinosa-Padilla, Sara Elva [2 ]
Lugo Reyes, Saul [2 ]
机构：
[1] Fdn Hosp Pediat Misericordia HOMI, Bogota, Colombia
[2] Natl Inst Pediat, Mexico City, DF, Mexico
[3] Natl Inst Med Sci & Nutr Dr Salvador Zubiran, Dept Infect Dis, Mexico City, DF, Mexico
[4] Natl Inst Pediat, Dept Clin Immunol, Mexico City, DF, Mexico
来源：
CLINICAL IMMUNOLOGY | 2023年 / 250卷
关键词：
Autoimmunity; Whole-exome sequencing; Primary immune deficiencies; Rare diseases; Inborn errors of immunity;
D O I：
10.1016/j.clim.2023.109557
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
211
引用
收藏
页码：123 / 123
页数：1
相关论文
共 50 条
  • [1] Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity
    Lina M. Castano-Jaramillo
    Francisco Rivas Larrauri
    Selma C. Scheffler-Mendoza
    Alonso Gutierrez-Hernandez
    Juan Carlos Bustamante Ogando
    Paulina Colin
    Margarita Ortega Cisneros
    Sandra Rajme-López
    Edgar Alejandro Medina-Torres
    Laura Berron Ruiz
    Ana Luisa Rodriguez-Lozano
    Sara Elva Espinosa Padilla
    Marco Antonio Yamazaki-Nakashimada
    Saul O. Lugo Reyes
    Journal of Genetics, 102
  • [2] Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity
    Castano-Jaramillo, Lina M.
    Rivas Larrauri, Francisco
    Scheffler-Mendoza, Selma C.
    Gutierrez-Hernandez, Alonso
    Bustamante Ogando, Juan Carlos
    Colin, Paulina
    Ortega Cisneros, Margarita
    Rajme-Lopez, Sandra
    Medina-Torres, Edgar Alejandro
    Berron Ruiz, Laura
    Rodriguez-Lozano, Ana Luisa
    Espinosa Padilla, Sara Elva
    Yamazaki-Nakashimada, Marco Antonio
    Lugo Reyes, Saul O.
    JOURNAL OF GENETICS, 2023, 102 (02)
  • [3] The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia
    Glotov, Oleg S.
    Zhuchenko, Natalya A.
    Balashova, Maria S.
    Raspopova, Aleksandra N.
    Tsai, Victoria V.
    Chernov, Alexandr N.
    Chuiko, Iana V.
    Danilov, Lavrentii G.
    Morozova, Lyudmila D.
    Glotov, Andrey S.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (21)
  • [4] Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
    Scholz, Tasja
    Blohm, Martin Ernst
    Kortum, Fanny
    Bierhals, Tatjana
    Lessel, Davor
    van der Ven, Amelie T.
    Lisfeld, Jasmin
    Herget, Theresia
    Kloth, Katja
    Singer, Dominique
    Perez, Anna
    Obi, Nadia
    Johannsen, Jessika
    Denecke, Jonas
    Santer, Rene
    Kubisch, Christian
    Deindl, Philipp
    Hempel, Maja
    NEONATOLOGY, 2021, 118 (04) : 454 - 461
  • [5] Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management
    Kheriji, Nadia
    Dallali, Hamza
    Gouiza, Ismail
    Hechmi, Meriem
    Mahjoub, Faten
    Mrad, Mehdi
    Krir, Asma
    Soltani, Manel
    Trabelsi, Hajer
    Hamdi, Walid
    Bahlous, Afef
    Ben Ahmed, Melika
    Jamoussi, Henda
    Kefi, Rym
    FRONTIERS IN GENETICS, 2023, 14
  • [6] Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia
    Barbitoff, Yury A.
    Skitchenko, Rostislav K.
    Poleshchuk, Olga, I
    Shikov, Anton E.
    Serebryakova, Elena A.
    Nasykhova, Yulia A.
    Polev, Dmitrii E.
    Shuvalova, Anna R.
    Shcherbakova, Irina, V
    Fedyakov, Mikhail A.
    Glotov, Oleg S.
    Glotov, Andrey S.
    Predeus, Alexander, V
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (11):
  • [7] Tiered analysis of whole-exome sequencing for epilepsy diagnosis
    Dunn, Paul J.
    Maher, Bridget H.
    Albury, Cassie L.
    Stuart, Shani
    Sutherland, Heidi G.
    Maksemous, Neven
    Benton, Miles C.
    Smith, Robert A.
    Haupt, Larisa M.
    Griffiths, Lyn R.
    MOLECULAR GENETICS AND GENOMICS, 2020, 295 (03) : 751 - 763
  • [8] Tiered analysis of whole-exome sequencing for epilepsy diagnosis
    Paul J. Dunn
    Bridget H. Maher
    Cassie L. Albury
    Shani Stuart
    Heidi G. Sutherland
    Neven Maksemous
    Miles C. Benton
    Robert A. Smith
    Larisa M. Haupt
    Lyn R. Griffiths
    Molecular Genetics and Genomics, 2020, 295 : 751 - 763
  • [9] Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia
    Zhao, Rong
    Ruan, Yan
    Wang, Xin
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2015, 8 (10): : 19241 - 19249
  • [10] Molecular diagnosis of McArdle disease using whole-exome sequencing
    Kang, Ju-Hyung
    Park, Jun-Hyung
    Park, Jin-Soon
    Lee, Seong-Kyu
    Lee, Sunghoon
    Baik, Haing-Woon
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2021, 22 (03)
12345