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

[1] The phenotype of human STK4 deficiency [J].

Abdollahpour, Hengameh ;

Appaswamy, Giridharan ;

Kotlarz, Daniel ;

Diestelhorst, Jana ;

Beier, Rita ;

Schaeffer, Alejandro A. ;

Gertz, E. Michael ;

Schambach, Axel ;

Kreipe, Hans H. ;

Pfeifer, Dietmar ;

Engelhardt, Karin R. ;

Rezaei, Nima ;

Grimbacher, Bodo ;

Lohrmann, Sabine ;

Sherkat, Roya ;

Klein, Christoph .

BLOOD, 2012, 119 (15) :3450-3457

[2] Isoform diversity in the Arp2/3 complex determines actin filament dynamics [J].

Abella, Jasmine V. G. ;

Galloni, Chiara ;

Pernier, Julien ;

Barry, David J. ;

Kjaer, Svend ;

Carlier, Marie-France ;

Way, Michael .

NATURE CELL BIOLOGY, 2016, 18 (01) :76-+

[3] Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia [J].

Accetta, Deborah ;

Syverson, Grant ;

Bonacci, Benedetta ;

Reddy, Sreelatha ;

Bengtson, Christine ;

Surfus, Jill ;

Harbeck, Ronald ;

Huttenlocher, Anna ;

Grossman, William ;

Routes, John ;

Verbsky, James .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2011, 127 (02) :535-538

[4] DOCK2 Deficiency in a Patient with Hyper IgM Phenotype [J].

Alizadeh, Zahra ;

Mazinani, Marzieh ;

Shakerian, Leila ;

Nabavi, Mohammad ;

Fazlollahi, Mohammad R. .

JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (01) :10-12

[5] RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency [J].

Alkhairy, Omar K. ;

Rezaei, Nima ;

Graham, Robert R. ;

Abolhassani, Hassan ;

Borte, Stephan ;

Hultenby, Kjell ;

Wu, Chenglin ;

Aghamohammadi, Asghar ;

Williams, David A. ;

Behrens, Timothy W. ;

Hammarstrom, Lennart ;

Pan-Hammarstrom, Qiang .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (05) :1380-+

[6] Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation [J].

Ambruso, DR ;

Knall, C ;

Abell, AN ;

Panepinto, J ;

Kurkchubasche, A ;

Thurman, G ;

Gonzalez-Aller, C ;

Hiester, A ;

deBoer, M ;

Harbeck, RJ ;

Oyer, R ;

Johnson, GL ;

Roos, D .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (09) :4654-4659

[7] Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency [J].

Aydin, Susanne E. ;

Freeman, Alexandra F. ;

Al-Herz, Waleed ;

Al-Mousa, Hamoud A. ;

Arnaout, Rand K. ;

Aydin, Roland C. ;

Barlogis, Vincent ;

Belohradsky, Bernd H. ;

Bonfim, Carmem ;

Bredius, Robbert G. ;

Chu, Julia I. ;

Ciocarlie, Oana C. ;

Dogu, Figen ;

Gaspar, Hubert B. ;

Geha, Raif S. ;

Gennery, Andrew R. ;

Hauck, Fabian ;

Hawwari, Abbas ;

Hickstein, Dennis D. ;

Hoenig, Manfred ;

Ikinciogullari, Aydan ;

Klein, Christoph ;

Kumar, Ashish ;

Ifversen, Marianne R. S. ;

Matthes, Susanne ;

Metin, Ayse ;

Neven, Benedicte ;

Pai, Sung-Yun ;

Parikh, Suhag H. ;

Picard, Capucine ;

Renner, Ellen D. ;

Sanal, Ozden ;

Schulz, Ansgar S. ;

Schuster, Friedhelm ;

Shah, Nirali N. ;

Shereck, Evan B. ;

Slatter, Mary A. ;

Su, Helen C. ;

van Montfrans, Joris ;

Woessmann, Wilhelm ;

Ziegler, John B. ;

Albert, Michael H. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2019, 7 (03) :848-855

[8] DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients [J].

Aydin, Susanne E. ;

Kilic, Sara Sebnem ;

Aytekin, Caner ;

Kumar, Ashish ;

Porras, Oscar ;

Kainulainen, Leena ;

Kostyuchenko, Larysa ;

Genel, Ferah ;

Kutukculer, Necil ;

Karaca, Neslihan ;

Gonzalez-Granado, Luis ;

Abbott, Jordan ;

Al-Zahrani, Daifulah ;

Rezaei, Nima ;

Baz, Zeina ;

Thiel, Jens ;

Ehl, Stephan ;

Marodi, Laszlo ;

Orange, Jordan S. ;

Sawalle-Belohradsky, Julie ;

Keles, Sevgi ;

Holland, Steven M. ;

Sanal, Ozden ;

Ayvaz, Deniz C. ;

Tezcan, Ilhan ;

Al-Mousa, Hamoud ;

Alsum, Zobaida ;

Hawwari, Abbas ;

Metin, Ayse ;

Matthes-Martin, Susanne ;

Hoenig, Manfred ;

Schulz, Ansgar ;

Picard, Capucine ;

Barlogis, Vincent ;

Gennery, Andrew ;

Ifversen, Marianne ;

van Montfrans, Joris ;

Kuijpers, Taco ;

Bredius, Robbert ;

Duckers, Gregor ;

Al-Herz, Waleed ;

Pai, Sung-Yun ;

Geha, Raif ;

Notheis, Gundula ;

Schwarze, Carl-Philipp ;

Tavil, Betul ;

Azik, Fatih ;

Bienemann, Kirsten ;

Grimbacher, Bodo ;

Heinz, Valerie .

JOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (02) :189-198

[9] A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity [J].

Beziat, Vivien ;

Li, Juan ;

Lin, Jian-Xin ;

Ma, Cindy S. ;

Li, Peng ;

Bousfiha, Aziz ;

Pellier, Isabelle ;

Zoghi, Samaneh ;

Baris, Safa ;

Keles, Sevgi ;

Gray, Paul ;

Du, Ning ;

Wang, Yi ;

Zerbib, Yoann ;

Levy, Romain ;

Leclercq, Thibaut ;

About, Fredegonde ;

Lim, Ai Ing ;

Rao, Geetha ;

Payne, Kathryn ;

Pelham, Simon J. ;

Avery, Danielle T. ;

Deenick, Elissa K. ;

Pillay, Bethany ;

Chou, Janet ;

Guery, Romain ;

Belkadi, Aziz ;

Guerin, Antoine ;

Migaud, Melanie ;

Rattina, Vimel ;

Ailal, Fatima ;

Benhsaien, Ibtihal ;

Bouaziz, Matthieu ;

Habib, Tanwir ;

Chaussabel, Damien ;

Marr, Nico ;

El-Benna, Jamel ;

Grimbacher, Bodo ;

Wargon, Orli ;

Bustamante, Jacinta ;

Boisson, Bertrand ;

Mueller-Fleckenstein, Ingrid ;

Fleckenstein, Bernhard ;

Chandesris, Marie-Olivia ;

Titeux, Matthias ;

Fraitag, Sylvie ;

Alyanakian, Marie-Alexandra ;

Leruez-Ville, Marianne ;

Picard, Capucine ;

Meyts, Isabelle .

SCIENCE IMMUNOLOGY, 2018, 3 (24)

[10] The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies [J].

Bousfiha, Aziz ;

Jeddane, Leila ;

Picard, Capucine ;

Ailal, Fatima ;

Gaspar, H. Bobby ;

Al-Herz, Waleed ;

Chatila, Talal ;

Crow, Yanick J. ;

Cunningham-Rundles, Charlotte ;

Etzioni, Amos ;

Luis Franco, Jose ;

Holland, Steven M. ;

Klein, Christoph ;

Morio, Tomohiro ;

Ochs, Hans D. ;

Oksenhendler, Eric ;

Puck, Jennifer ;

Tang, Mimi L. K. ;

Tangye, Stuart G. ;

Torgerson, Troy R. ;

Casanova, Jean-Laurent ;

Sullivan, Kathleen E. .

JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (01) :129-143

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