Discovery of single-gene inborn errors of immunity by next generation sequencing

被引：66

作者：

Conley, Mary Ellen ^{[1
]}

Casanova, Jean-Laurent ^{[1
,2
,3
,4
,5
]}

机构：

[1] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA

[2] Howard Hughes Med Inst, Chevy Chase, MD USA

[3] Paris Descartes Univ, Necker Branch, Lab Human Genet Infect Dis, Paris, France

[4] Necker Hosp Sick Children, INSERM, Imagine Inst, Paris, France

[5] Necker Hosp Sick Children, Pediat Hematol Immunol Unit, Paris, France

来源：

CURRENT OPINION IN IMMUNOLOGY | 2014年 / 30卷

关键词：

LOSS-OF-FUNCTION; COMBINED IMMUNODEFICIENCY; AUTOSOMAL-DOMINANT; RAG MUTATIONS; LIVER DEGENERATION; P85-ALPHA SUBUNIT; CELL DEFICIENCY; STAT1; MUTATIONS; 11; CARD11; DISEASE;

D O I：

10.1016/j.coi.2014.05.004

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Many patients with clinical and laboratory evidence of primary immunodeficiency do not have a gene specific diagnosis. The use of next generation sequencing, particularly whole exome sequencing, has given us an extraordinarily powerful tool to identify the disease-causing genes in some of these patients. At least 34 new gene defects have been identified in the last 4 years. These findings document the striking heterogeneity of the phenotype in patients with mutations in the same gene. In some cases this can be attributed to loss-of-function mutations in some patients, but gain-of-function mutations in others. In addition, the surprisingly high frequency of autosomal dominant immunodeficiencies with variable penetrance, and de novo mutations in disorders with a severe phenotype has been unmasked.

引用

页码：17 / 23

页数：7

共 74 条

[41] Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome [J].

Kotlarz, Daniel ;

Zietara, Natalia ;

Uzel, Gulbu ;

Weidemann, Thomas ;

Braun, Christian J. ;

Diestelhorst, Jana ;

Krawitz, Peter M. ;

Robinson, Peter N. ;

Hecht, Jochen ;

Puchalka, Jacek ;

Gertz, E. Michael ;

Schaeffer, Alejandro A. ;

Lawrence, Monica G. ;

Kardava, Lela ;

Pfeifer, Dietmar ;

Baumann, Ulrich ;

Pfister, Eva-Doreen ;

Hanson, Eric P. ;

Schambach, Axel ;

Jacobs, Roland ;

Kreipe, Hans ;

Moir, Susan ;

Milner, Joshua D. ;

Schwille, Petra ;

Mundlos, Stefan ;

Klein, Christoph .

JOURNAL OF EXPERIMENTAL MEDICINE, 2013, 210 (03) :433-443

[42] Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans [J].

Kuehn, Hye Sun ;

Niemela, Julie E. ;

Rangel-Santos, Andreia ;

Zhang, Mingchang ;

Pittaluga, Stefania ;

Stoddard, Jennifer L. ;

Hussey, Ashleigh A. ;

Evbuomwan, Moses O. ;

Priel, Debra A. Long ;

Kuhns, Douglas B. ;

Park, C. Lucy ;

Fleisher, Thomas A. ;

Uzel, Gulbu ;

Oliveira, Joao B. .

BLOOD, 2013, 121 (16) :3117-3125

[43] Human RTEL1 deficiency causes HoyeraalHreidarsson syndrome with short telomeres and genome instability [J].

Le Guen, Tangui ;

Jullien, Laurent ;

Touzot, Fabien ;

Schertzer, Michael ;

Gaillard, Laetitia ;

Perderiset, Mylene ;

Carpentier, Wassila ;

Nitschke, Patrick ;

Picard, Capucine ;

Couillault, Gerard ;

Soulier, Jean ;

Fischer, Alain ;

Callebaut, Isabelle ;

Jabado, Nada ;

Londono-Vallejo, Arturo ;

de Villartay, Jean-Pierre ;

Revy, Patrick .

HUMAN MOLECULAR GENETICS, 2013, 22 (16) :3239-3249

[44] Second messenger role for Mg2+ revealed by human T-cell immunodeficiency [J].

Li, Feng-Yen ;

Chaigne-Delalande, Benjamin ;

Kanellopoulou, Chrysi ;

Davis, Jeremiah C. ;

Matthews, Helen F. ;

Douek, Daniel C. ;

Cohen, Jeffrey I. ;

Uzel, Gulbu ;

Su, Helen C. ;

Lenardo, Michael J. .

NATURE, 2011, 475 (7357) :471-U63

[45] Severe liver degeneration in mice lacking the IκB kinase 2 gene [J].

Li, QT ;

Van Antwerp, D ;

Mercurio, F ;

Lee, KF ;

Verma, IM .

SCIENCE, 1999, 284 (5412) :321-325

[46] Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis [J].

Liu, Luyan ;

Okada, Satoshi ;

Kong, Xiao-Fei ;

Kreins, Alexandra Y. ;

Cypowyj, Sophie ;

Abhyankar, Avinash ;

Toubiana, Julie ;

Itan, Yuval ;

Audry, Magali ;

Nitschke, Patrick ;

Masson, Cecile ;

Toth, Beata ;

Flatot, Jerome ;

Migaud, Melanie ;

Chrabieh, Maya ;

Kochetkov, Tatiana ;

Bolze, Alexandre ;

Borghesi, Alessandro ;

Toulon, Antoine ;

Hiller, Julia ;

Eyerich, Stefanie ;

Eyerich, Kilian ;

Gulacsy, Vera ;

Chernyshova, Ludmyla ;

Chernyshov, Viktor ;

Bondarenko, Anastasia ;

Cortes Grimaldo, Rosa Maria ;

Blancas-Galicia, Lizbeth ;

Madrigal Beas, Ileana Maria ;

Roesler, Joachim ;

Magdorf, Klaus ;

Engelhard, Dan ;

Thumerelle, Caroline ;

Burgel, Pierre-Regis ;

Hoernes, Miriam ;

Drexel, Barbara ;

Seger, Reinhard ;

Kusuma, Theresia ;

Jansson, Annette F. ;

Sawalle-Belohradsky, Julie ;

Belohradsky, Bernd ;

Jouanguy, Emmanuelle ;

Bustamante, Jacinta ;

Bue, Melanie ;

Karin, Nathan ;

Wildbaum, Gizi ;

Bodemer, Christine ;

Lortholary, Olivier ;

Fischer, Alain ;

Blanche, Stephane .

JOURNAL OF EXPERIMENTAL MEDICINE, 2011, 208 (08) :1635-1648

[47] Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity [J].

Lopez-Herrera, Gabriela ;

Tampella, Giacomo ;

Pan-Hammarstrom, Qiang ;

Herholz, Peer ;

Trujillo-Vargas, Claudia M. ;

Phadwal, Kanchan ;

Simon, Anna Katharina ;

Moutschen, Michel ;

Etzioni, Amos ;

Mory, Adi ;

Srugo, Izhak ;

Melamed, Doron ;

Hultenby, Kjell ;

Liu, Chonghai ;

Baronio, Manuela ;

Vitali, Massimiliano ;

Philippet, Pierre ;

Dideberg, Vinciane ;

Aghamohammadi, Asghar ;

Rezaei, Nima ;

Enright, Victoria ;

Du, Likun ;

Salzer, Ulrich ;

Eibel, Hermann ;

Pfeifer, Dietmar ;

Veelken, Hendrik ;

Stauss, Hans ;

Lougaris, Vassilios ;

Plebani, Alessandro ;

Gertz, E. Michael ;

Schaeffer, Alejandro A. ;

Hammarstrom, Lennart ;

Grimbacher, Bodo .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (06) :986-1001

[48] Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency [J].

Lucas, Carrie L. ;

Kuehn, Hye Sun ;

Zhao, Fang ;

Niemel, Julie E. ;

Deenick, Elissa K. ;

Palendira, Umaimainthan ;

Avery, Danielle T. ;

Moens, Leen ;

Cannons, Jennifer L. ;

Lanai, Matthew Bianca ;

Stoddard, Jennifer ;

Ouyane, Weiming ;

Frucht, David M. ;

Rao, V. Koneti ;

Atkinson, T. Prescott ;

Agharahimi, Anahita ;

Hussey, Ashleigh A. ;

Folioll, Les R. ;

Olivier, Kenneth N. ;

Fleisher, Thomas A. ;

Pittaluga, Stefania ;

Holland, Steven M. ;

Cohen, Jeffrey I. ;

Oliveira, Joao B. ;

Tangye, Stuart G. ;

Schwartzberg, Pamela L. ;

Lenardol, Michael J. ;

Uzel, Gulbu .

NATURE IMMUNOLOGY, 2014, 15 (01) :88-97

[49] Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity [J].

Minegishi, Yoshiyuki ;

Saito, Masako ;

Morio, Tomohiro ;

Watanabe, Ken ;

Agematsu, Kazunaga ;

Tsuchiya, Shigeru ;

Takada, Hidetoshi ;

Hara, Toshiro ;

Kawamura, Nobuaki ;

Ariga, Tadashi ;

Kaneko, Hideo ;

Kondo, Naomi ;

Tsuge, Ikuya ;

Yachie, Akihiro ;

Sakiyama, Yukio ;

Iwata, Tsutomu ;

Bessho, Fumio ;

Ohishi, Tsutomu ;

Joh, Kosuke ;

Imai, Kohsuke ;

Kogawa, Kazuhiro ;

Shinohara, Miwa ;

Fujieda, Mikiya ;

Wakiguchi, Hiroshi ;

Pasic, Srdjan ;

Abinun, Mario ;

Ochs, Hans D. ;

Renner, Eleonore D. ;

Jansson, Annette ;

Belohradsky, Bernd H. ;

Ayse, Metin ;

Shimizu, Norio ;

Mizutani, Shuki ;

Miyawaki, Toshio ;

Nonoyama, Shigeaki ;

Karasuyama, Hajime .

IMMUNITY, 2006, 25 (05) :745-755

[50] Targeted capture and massively parallel sequencing of 12 human exomes [J].

Ng, Sarah B. ;

Turner, Emily H. ;

Robertson, Peggy D. ;

Flygare, Steven D. ;

Bigham, Abigail W. ;

Lee, Choli ;

Shaffer, Tristan ;

Wong, Michelle ;

Bhattacharjee, Arindam ;

Eichler, Evan E. ;

Bamshad, Michael ;

Nickerson, Deborah A. ;

Shendure, Jay .

NATURE, 2009, 461 (7261) :272-U153

← 1 2 3 4 5 6 7 8 →