Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

被引：46

作者：

Picard, Capucine ^{[1
,2
,3
]}

Fischer, Alain ^{[3
,4
,5
,6
]}

机构：

[1] Hop Necker Enfants Malad, AP HP, Study Ctr Primary Immunodeficiencies, Paris, France

[2] INSERM, UMR 1163, Necker Branch, Lab Human Genet Infect Dis, Paris, France

[3] Paris Descartes Univ, Sorbonne Paris Cite, Imagine Inst, Paris, France

[4] INSERM, UMR 1163, Paris, France

[5] Hop Necker Enfants Malad, AP HP, Pediat Hematol Immunol Unit, Paris, France

[6] Coll France, F-75231 Paris, France

来源：

EUROPEAN JOURNAL OF IMMUNOLOGY | 2014年 / 44卷 / 10期

关键词：

Genetic diagnostics; Next-generation sequencing; Primary immunodeficiency; Sanger sequencing; Whole exome sequencing; Whole-genome sequencing; CLASS-II DEFICIENCY; CHRONIC GRANULOMATOUS-DISEASE; WHOLE-EXOME; AUTOSOMAL-DOMINANT; TYROSINE KINASE; STAT1; MUTATIONS; GENE MUTATION; CYTOCHROME-B; GENOME; CELL;

D O I：

10.1002/eji.201444669

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Primary immunodeficiencies (PIDs) are inborn errors of the immune system. PIDs have been characterized immunologically for the last 60 years and genetically, principally by Sanger DNA sequencing, over the last 30 years. The advent of next-generation sequencing (NGS) in 2011, with the development of whole-exome sequencing in particular, has facilitated the identification of previously unknown genetic lesions. NGS is rapidly generating a stream of candidate variants for an increasing number of genetically undefined PIDs. The use of NGS technology is ushering in a new era, by facilitating the discovery and characterization of new PIDs in patients with infections and other phenotypes, thereby helping to improve diagnostic accuracy. This review provides a historical overview of the identification of PIDs before NGS, and the advances and limitations of the use of NGS for the diagnosis and characterization of PIDs.

引用

页码：2854 / 2861

页数：8

共 72 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency [J].

Al-Herz, Waleed ;

Bousfiha, Aziz ;

Casanova, Jean-Laurent ;

Chatila, Talal ;

Conley, Mary Ellen ;

Cunningham-Rundles, Charlotte ;

Etzioni, Amos ;

Franco, Jose Luis ;

Gaspar, H. Bobby ;

Holland, Steven M. ;

Klein, Christoph ;

Nonoyama, Shigeaki ;

Ochs, Hans D. ;

Oksenhendler, Erik ;

Picard, Capucine ;

Puck, Jennifer M. ;

Sullivan, Kate ;

Tang, Mimi L. K. .

FRONTIERS IN IMMUNOLOGY, 2014, 5

[3] LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency [J].

Alangari, Abdullah ;

Alsultan, Abdulrahman ;

Adly, Nouran ;

Massaad, Michel J. ;

Kiani, Iram Shakir ;

Aljebreen, Abdulrahman ;

Raddaoui, Emad ;

Almomen, Abdul-Kareem ;

Al-Muhsen, Saleh ;

Geha, Raif S. ;

Alkuraya, Fowzan S. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, 130 (02) :481-+

[4] Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage [J].

Angulo, Ivan ;

Vadas, Oscar ;

Garcon, Fabien ;

Banham-Hall, Edward ;

Plagnol, Vincent ;

Leahy, Timothy R. ;

Baxendale, Helen ;

Coulter, Tanya ;

Curtis, James ;

Wu, Changxin ;

Blake-Palmer, Katherine ;

Perisic, Olga ;

Smyth, Deborah ;

Maes, Mailis ;

Fiddler, Christine ;

Juss, Jatinder ;

Cilliers, Deirdre ;

Markelj, Gasper ;

Chandra, Anita ;

Farmer, George ;

Kielkowska, Anna ;

Clark, Jonathan ;

Kracker, Sven ;

Debre, Marianne ;

Picard, Capucine ;

Pellier, Isabelle ;

Jabado, Nada ;

Morris, James A. ;

Barcenas-Morales, Gabriela ;

Fischer, Alain ;

Stephens, Len ;

Hawkins, Phillip ;

Barrett, Jeffrey C. ;

Abinun, Mario ;

Clatworthy, Menna ;

Durandy, Anne ;

Doffinger, Rainer ;

Chilvers, Edwin R. ;

Cant, Andrew J. ;

Kumararatne, Dinakantha ;

Okkenhaug, Klaus ;

Williams, Roger L. ;

Condliffe, Alison ;

Nejentsev, Sergey .

SCIENCE, 2013, 342 (6160) :866-871

[5] DNA LINKAGE ANALYSIS OF X-CHROMOSOME-LINKED CHRONIC GRANULOMATOUS-DISEASE [J].

BAEHNER, RL ;

KUNKEL, LM ;

MONACO, AP ;

HAINES, JL ;

CONNEALLY, PM ;

PALMER, C ;

HEEREMA, N ;

ORKIN, SH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (10) :3398-3401

[6] The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions [J].

Bamshad, Michael J. ;

Shendure, Jay A. ;

Valle, David ;

Hamosh, Ada ;

Lupski, James R. ;

Gibbs, Richard A. ;

Boerwinkle, Eric ;

Lifton, Richard P. ;

Gerstein, Mark ;

Gunel, Murat ;

Mane, Shrikant ;

Nickerson, Deborah A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (07) :1523-1525

[7]

BERENDES H, 1957, Minn Med, V40, P309

[8] Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency [J].

Bogunovic, Dusan ;

Byun, Minji ;

Durfee, Larissa A. ;

Abhyankar, Avinash ;

Sanal, Ozden ;

Mansouri, Davood ;

Salem, Sandra ;

Radovanovic, Irena ;

Grant, Audrey V. ;

Adimi, Parisa ;

Mansouri, Nahal ;

Okada, Satoshi ;

Bryant, Vanessa L. ;

Kong, Xiao-Fei ;

Kreins, Alexandra ;

Velez, Marcela Moncada ;

Boisson, Bertrand ;

Khalilzadeh, Soheila ;

Ozcelik, Ugur ;

Darazam, Ilad Alavi ;

Schoggins, John W. ;

Rice, Charles M. ;

Al-Muhsen, Saleh ;

Behr, Marcel ;

Vogt, Guillaume ;

Puel, Anne ;

Bustamante, Jacinta ;

Gros, Philippe ;

Huibregtse, Jon M. ;

Abel, Laurent ;

Boisson-Dupuis, Stephanie ;

Casanova, Jean-Laurent .

SCIENCE, 2012, 337 (6102) :1684-1688

[9] Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency [J].

Boisson, Bertrand ;

Laplantine, Emmanuel ;

Prando, Carolina ;

Giliani, Silvia ;

Israelsson, Elisabeth ;

Xu, Zhaohui ;

Abhyankar, Avinash ;

Israel, Laura ;

Trevejo-Nunez, Giraldina ;

Bogunovic, Dusan ;

Cepika, Alma-Martina ;

MacDuff, Donna ;

Chrabieh, Maya ;

Hubeau, Marjorie ;

Bajolle, Fanny ;

Debre, Marianne ;

Mazzolari, Evelina ;

Vairo, Donatella ;

Agou, Fabrice ;

Virgin, Herbert W. ;

Bossuyt, Xavier ;

Rambaud, Caroline ;

Facchetti, Fabio ;

Bonnet, Damien ;

Quartier, Pierre ;

Fournet, Jean-Christophe ;

Pascual, Virginia ;

Chaussabel, Damien ;

Notarangelo, Luigi D. ;

Puel, Anne ;

Israel, Alain ;

Casanova, Jean-Laurent ;

Picard, Capucine .

NATURE IMMUNOLOGY, 2012, 13 (12) :1178-+

[10] Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia [J].

Bolze, Alexandre ;

Mahlaoui, Nizar ;

Byun, Minji ;

Turner, Bridget ;

Trede, Nikolaus ;

Ellis, Steven R. ;

Abhyankar, Avinash ;

Itan, Yuval ;

Patin, Etienne ;

Brebner, Samuel ;

Sackstein, Paul ;

Puel, Anne ;

Picard, Capucine ;

Abel, Laurent ;

Quintana-Murci, Lluis ;

Faust, Saul N. ;

Williams, Anthony P. ;

Baretto, Richard ;

Duddridge, Michael ;

Kini, Usha ;

Pollard, Andrew J. ;

Gaud, Catherine ;

Frange, Pierre ;

Orbach, Daniel ;

Emile, Lean-Francois ;

Stephan, Jean-Louis ;

Sorensen, Ricardo ;

Plebani, Alessandro ;

Hammarstrom, Lennart ;

Conley, Mary Ellen ;

Selleri, Licia ;

Casanova, Jean-Laurent .

SCIENCE, 2013, 340 (6135) :976-978

← 1 2 3 4 5 6 7 8 →