Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP

被引：38

作者：

Tangye, Stuart G. ^{[1
,2
]}

Bucciol, Giorgia ^{[3
,4
]}

Casas-Martin, Jose ^{[3
]}

Pillay, Bethany ^{[1
,2
]}

Ma, Cindy S. ^{[1
,2
]}

Moens, Leen ^{[3
]}

Meyts, Isabelle ^{[3
,4
]}

机构：

[1] Garvan Inst Med Res, Immunol Div, Sydney, NSW, Australia

[2] UNSW Sydney, St Vincents Clin Sch, Fac Med, Sydney, NSW, Australia

[3] Katholieke Univ Leuven, Lab Inborn Errors Immun, Dept Microbiol & Immunol, Leuven, Belgium

[4] Univ Hosp Leuven, Dept Pediat, Leuven, Belgium

来源：

IMMUNOLOGY AND CELL BIOLOGY | 2019年 / 97卷 / 04期

基金：

英国医学研究理事会;

关键词：

Coronin; 1A; cytoskeleton; DOCK2-DOCK8; primary immunodeficiency; RAC2; T-CELL SURVIVAL; COMBINED IMMUNODEFICIENCY; AUTOINFLAMMATORY DISEASE; SUPEROXIDE-PRODUCTION; DOCK2; DEFICIENCY; ARP2/3; COMPLEX; THYMIC EGRESS; RAC ACTIVATOR; RHO GTPASES; CORONIN; 1A;

D O I：

10.1111/imcb.12243

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Inherited defects in genes encoding for proteins that are involved in the assembly and dynamics of the actin skeleton have increasingly been identified in patients presenting with primary immunodeficiencies. In this review, we summarize a subset of the recently described conditions, emphasizing the clinical features as well as the immunophenotype and pathophysiology.

引用

页码：389 / 402

页数：14

共 96 条

[21] First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID [J].

Delmonte, Ottavia M. ;

Biggs, Catherine M. ;

Hayward, Anthony ;

Comeau, Anne M. ;

Kuehn, Hye Sun ;

Rosenzweig, Sergio D. ;

Notarangelo, Luigi D. .

JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 (04) :336-338

[22] Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections [J].

Dobbs, K. ;

Conde, C. Dominguez ;

Zhang, S. -Y. ;

Parolini, S. ;

Audry, M. ;

Chou, J. ;

Haapaniemi, E. ;

Keles, S. ;

Bilic, I. ;

Okada, S. ;

Massaad, M. J. ;

Rounioja, S. ;

Alwahadneh, A. M. ;

Serwas, N. K. ;

Capuder, K. ;

Ciftci, E. ;

Felgentreff, K. ;

Ohsumi, T. K. ;

Pedergnana, V. ;

Boisson, B. ;

Haskologlu, S. ;

Ensari, A. ;

Schuster, M. ;

Moretta, A. ;

Itan, Y. ;

Patrizi, O. ;

Rozenberg, F. ;

Lebon, P. ;

Saarela, J. ;

Knip, M. ;

Petrovski, S. ;

Goldstein, D. B. ;

Parrott, R. E. ;

Savas, B. ;

Schambach, A. ;

Tabellini, G. ;

Bock, C. ;

Chatila, T. A. ;

Comeau, A. M. ;

Geha, R. S. ;

Abel, L. ;

Buckley, R. H. ;

Ikinciogullari, A. ;

Al-Herz, W. ;

Helminen, M. ;

Dogu, F. ;

Casanova, J. -L. ;

Boztug, K. ;

Notarangelo, L. D. .

NEW ENGLAND JOURNAL OF MEDICINE, 2015, 372 (25) :2409-2422

[23] The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency [J].

Engelhardt, Karin R. ;

Gertz, Michael E. ;

Keles, Sevgi ;

Schaeffer, Alejandro A. ;

Sigmund, Elena C. ;

Glocker, Cristina ;

Saghafi, Shiva ;

Pourpak, Zahra ;

Ceja, Ruben ;

Sassi, Atfa ;

Graham, Laura E. ;

Massaad, Michel J. ;

Mellouli, Fethi ;

Ben-Mustapha, Imen ;

Khemiri, Monia ;

Kilic, Sara Sebnem ;

Etzioni, Amos ;

Freeman, Alexandra F. ;

Thiel, Jens ;

Schulze, Ilka ;

Al-Herz, Waleed ;

Metin, Ayse ;

Sanal, Oezden ;

Tezcan, Ilhan ;

Yeganeh, Mehdi ;

Niehues, Tim ;

Dueckers, Gregor ;

Weinspach, Sebastian ;

Patiroglu, Turkan ;

Unal, Ekrem ;

Dasouki, Majed ;

Yilmaz, Mustafa ;

Genel, Ferah ;

Aytekin, Caner ;

Kutukculer, Necil ;

Somer, Ayper ;

Kilic, Mehmet ;

Reisli, Ismail ;

Camcioglu, Yildiz ;

Gennery, Andrew R. ;

Cant, Andrew J. ;

Jones, Alison ;

Gaspar, Bobby H. ;

Arkwright, Peter D. ;

Pietrogrande, Maria C. ;

Baz, Zeina ;

Al-Tamemi, Salem ;

Lougaris, Vassilios ;

Lefranc, Gerard ;

Megarbane, Andre .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 136 (02) :402-412

[24] Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome [J].

Engelhardt, Karin R. ;

McGhee, Sean ;

Winkler, Sabine ;

Sassi, Atfa ;

Woellner, Cristina ;

Lopez-Herrera, Gabriela ;

Chen, Andrew ;

Kim, Hong Sook ;

Lloret, Maria Garcia ;

Schulze, Ilka ;

Ehl, Stephan ;

Thiel, Jens ;

Pfeifer, Dietmar ;

Veelken, Hendrik ;

Niehues, Tim ;

Siepermann, Kathrin ;

Weinspach, Sebastian ;

Reisli, Ismail ;

Keles, Sevgi ;

Genel, Ferah ;

Kutuculer, Necil ;

Camcioglu, Yildiz ;

Somer, Ayper ;

Karakoc-Aydiner, Elif ;

Barlan, Isil ;

Gennery, Andrew ;

Metin, Ayse ;

Degerliyurt, Aydan ;

Pietrogrande, Maria C. ;

Yeganeh, Mehdi ;

Baz, Zeina ;

Al-Tamemi, Salem ;

Klein, Christoph ;

Puck, Jennifer M. ;

Holland, Steven M. ;

McCabe, Edward R. B. ;

Grimbacher, Bodo ;

Chatila, Talal A. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2009, 124 (06) :1289-1302

[25] ZNF341 controls STAT3 expression and thereby immunocompetence [J].

Frey-Jakobs, Stefanie ;

Hartberger, Julia M. ;

Fliegauf, Manfred ;

Bossen, Claudia ;

Wehmeyer, Magdalena L. ;

Neubauer, Johanna C. ;

Bulashevska, Alla ;

Proietti, Michele ;

Froebel, Philipp ;

Noeltner, Christina ;

Yang, Linlin ;

Rojas-Restrepo, Jessica ;

Langer, Niko ;

Winzer, Sandra ;

Engelhardt, Karin R. ;

Glocker, Cristina ;

Pfeifer, Dietmar ;

Klein, Adi ;

Schaffer, Alejandro A. ;

Lagovsky, Irina ;

Lachover-Roth, Idit ;

Beziat, Vivien ;

Puel, Anne ;

Casanova, Jean-Laurent ;

Fleckenstein, Bernhard ;

Weidinger, Stephan ;

Kilic, Sara S. ;

Garty, Ben-Zion ;

Etzioni, Amos ;

Grimbacher, Bodo .

SCIENCE IMMUNOLOGY, 2018, 3 (24)

[26] Kinases Mst1 and Mst2 positively regulate phagocytic induction of reactive oxygen species and bactericidal activity [J].

Geng, Jing ;

Sun, Xiufeng ;

Wang, Ping ;

Zhang, Shihao ;

Wang, Xiaozhen ;

Wu, Hongtan ;

Hong, Lixin ;

Xie, Changchuan ;

Li, Xun ;

Zhao, Hao ;

Liu, Qingxu ;

Jiang, Mingting ;

Chen, Qinghua ;

Zhang, Jinjia ;

Li, Yang ;

Song, Siyang ;

Wang, Hong-Rui ;

Zhou, Rongbin ;

Johnson, Randy L. ;

Chien, Kun-Yi ;

Lin, Sheng-Cai ;

Han, Jiahuai ;

Avruch, Joseph ;

Chen, Lanfen ;

Zhou, Dawang .

NATURE IMMUNOLOGY, 2015, 16 (11) :1142-1152

[27] The ARP2/3 complex: an actin nucleator comes of age [J].

Goley, Erin D. ;

Welch, Matthew D. .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2006, 7 (10) :713-726

[28] Dedicator of Cytokinesis 8 Interacts with Talin and Wiskott-Aldrich Syndrome Protein To Regulate NK Cell Cytotoxicity [J].

Ham, Hyoungjun ;

Guerrier, Sabrice ;

Kim, JungJin ;

Schoon, Renee A. ;

Anderson, Erik L. ;

Hamann, Michael J. ;

Lou, Zhenkun ;

Billadeau, Daniel D. .

JOURNAL OF IMMUNOLOGY, 2013, 190 (07) :3661-3669

[29] DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses [J].

Harada, Yosuke ;

Tanaka, Yoshihiko ;

Terasawa, Masao ;

Pieczyk, Markus ;

Habiro, Katsuyoshi ;

Katakai, Tomoya ;

Hanawa-Suetsugu, Kyoko ;

Kukimoto-Niino, Mutsuko ;

Nishizaki, Tomoko ;

Shirouzu, Mikako ;

Duan, Xuefeng ;

Uruno, Takehito ;

Nishikimi, Akihiko ;

Sanematsu, Fumiyuki ;

Yokoyama, Shigeyuki ;

Stein, Jens V. ;

Kinashi, Tatsuo ;

Fukui, Yoshinori .

BLOOD, 2012, 119 (19) :4451-4461

[30] Mammalian Rho GTPases:: new insights into their functions from in vivo studies [J].

Heasman, Sarah J. ;

Ridley, Anne J. .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2008, 9 (09) :690-701

← 1 2 3 4 5 6 7 8 9 10 →