A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

被引：36

作者：

Bekhouche, Bahia ^{[1
]}

Tourville, Aurore ^{[2
]}

Ravichandran, Yamini ^{[3
,4
]}

Tacine, Rachida ^{[2
]}

Abrami, Laurence ^{[5
]}

Dussiot, Michael ^{[1
]}

Khau-Dancasius, Andrea ^{[1
]}

Boccara, Olivia ^{[6
]}

Khirat, Meriem ^{[2
]}

Mangeney, Marianne ^{[2
]}

Dingli, Florent ^{[7
]}

Loew, Damarys ^{[7
]}

Boeda, Batiste ^{[3
]}

Jordan, Penelope ^{[8
]}

Molina, Thierry Jo ^{[1
,9
]}

Bellon, Nathalia ^{[6
]}

Fraitag, Sylvie ^{[10
]}

Hadj-Rabia, Smail ^{[6
]}

Blanche, Stephane ^{[11
]}

Puel, Anne ^{[12
]}

Etienne-Manneville, Sandrine ^{[3
]}

van der Goot, F. Gisou ^{[5
]}

Cherfils, Jacqueline ^{[13
,14
]}

Hermine, Olivier ^{[1
,15
]}

Casanova, Jean-Laurent ^{[12
,16
,17
,18
]}

Bodemer, Christine ^{[6
]}

Smahi, Asma ^{[1
]}

Delon, Jerome ^{[2
]}

机构：

[1] Univ Paris 05, Sorbonne Paris Cite, Lab Excellence GR Ex, Inst Imagine,INSERM,U1163,CNRS,ERL 8254, Paris, France

[2] Univ Paris, Inst Cochin, INSERM, U1016,CNRS,UMR8104, Paris, France

[3] Inst Pasteur, CNRS, UMR3691, Cell Polar Migrat & Canc Unit,Equipe Labellisee L, Paris, France

[4] Sorbonne Univ, F-75005 Paris, France

[5] Ecole Polytech Fed Lausanne, Sch Life Sci, Global Hlth Inst, Lausanne, Switzerland

[6] Paris Descartes Sorbonne Paris Cite Univ, Necker Enfants Malades Hosp, AP HP,Imagine Inst, Dept Dermatol,Reference Ctr Genodermatoses MAGEC, Paris, France

[7] PSL Res Univ, Inst Curie, Ctr Rech, Lab Spectrometrie Masse Prote, Paris, France

[8] Hop Necker Enfants Malad, Serv Genet Mol, Federat Genet, Paris, France

[9] Univ Paris, Necker Enfants Malad, Dept Pathol, Paris, France

[10] Necker Enfants Malad Hosp, AP HP, Reference Ctr MAGEC, Dept Pathol, Paris, France

[11] Paris Descartes Sorbonne Paris Cite Univ, Necker Enfants Malad Hosp, AP HP5, Unite Immunol Hematol Rhumatol Pediat, Paris, France

[12] Descartes Univ, Imagine Inst, Lab Human Genet Infect Dis, Necker Branch,INSERM,U1163, Paris, France

[13] CNRS, Lab Biol & Pharmacol Appl, Cachan, France

[14] Ecole Normale Super Paris Saclay, Cachan, France

[15] Hop Necker Enfants Malad, AP HP, Dept Hematol, Paris, France

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

[17] Howard Hughes Med Inst, New York, NY USA

[18] Paris Descartes Sorbonne Paris Cite Univ, Necker Enfants Malad Hosp, AP HP, Dept Pediat Immunol & Hematol, Paris, France

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2020年 / 146卷 / 05期

关键词：

ACTIVATION; GTPASES;

D O I：

10.1016/j.jaci.2020.03.020

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

[No abstract available]

引用

页码：1201 / +

页数：12

共 15 条

[1] Protein prenylation restrains innate immunity by inhibiting Rac1 effector interactions [J].

Akula, Murali K. ;

Ibrahim, Mohamed X. ;

Ivarsson, Emil G. ;

Khan, Omar M. ;

Kumar, Israiel T. ;

Erlandsson, Malin ;

Karlsson, Christin ;

Xu, Xiufeng ;

Brisslert, Mikael ;

Brakebusch, Cord ;

Wang, Donghai ;

Bokarewa, Maria ;

Sayin, Volkan, I ;

Bergo, Martin O. .

NATURE COMMUNICATIONS, 2019, 10 (1)

[2] Control of the innate immune response by the mevalonate pathway [J].

Akula, Murali K. ;

Shi, Man ;

Jiang, Zhaozhao ;

Foster, Celia E. ;

Miao, David ;

Li, Annie S. ;

Zhang, Xiaoman ;

Gavin, Ruth M. ;

Forde, Sorcha D. ;

Germain, Gail ;

Carpenter, Susan ;

Rosadini, Charles V. ;

Gritsman, Kira ;

Chae, Jae Jin ;

Hampton, Randolph ;

Silverman, Neal ;

Gravallese, Ellen M. ;

Kagan, Jonathan C. ;

Fitzgerald, Katherine A. ;

Kastner, Daniel L. ;

Golenbock, Douglas T. ;

Bergo, Martin O. ;

Wang, Donghai .

NATURE IMMUNOLOGY, 2016, 17 (08) :922-+

[3] Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas [J].

Bal, Elodie ;

Park, Hyun-Sook ;

Belaid-Choucair, Zakia ;

Kayserili, Hulya ;

Naville, Magali ;

Madrange, Marine ;

Chiticariu, Elena ;

Hadj-Rabia, Smail ;

Cagnard, Nicolas ;

Kuonen, Francois ;

Bachmann, Daniel ;

Huber, Marcel ;

Le Gall, Cindy ;

Cote, Francine ;

Hanein, Sylvain ;

Rosti, Rasim Ozgur ;

Aslanger, Ayca Dilruba ;

Waisfisz, Quinten ;

Bodemer, Christine ;

Hermine, Olivier ;

Morice-Picard, Fanny ;

Labeille, Bruno ;

Caux, Frederic ;

Mazereeuw-Hautier, Juliette ;

Philip, Nicole ;

Levy, Nicolas ;

Taieb, Alain ;

Avril, Marie-Francoise ;

Headon, Denis J. ;

Gyapay, Gabor ;

Magnaldo, Thierry ;

Fraitag, Sylvie ;

Roest Crollius, Hugues ;

Vabres, Pierre ;

Hohl, Daniel ;

Munnich, Arnold ;

Smahi, Asma .

NATURE MEDICINE, 2017, 23 (10) :1226-+

[4] REGULATION OF SMALL GTPases BY GEFs, GAPs, AND GDIs [J].

Cherfils, Jacqueline ;

Zeghouf, Mahel .

PHYSIOLOGICAL REVIEWS, 2013, 93 (01) :269-309

[5] ERM proteins regulate cytoskeleton relaxation promoting T cell-APC conjugation [J].

Faure, S ;

Salazar-Fontana, LI ;

Semichon, M ;

Tybulewicz, VLJ ;

Bismuth, G ;

Trautmann, A ;

Germain, RN ;

Delon, J .

NATURE IMMUNOLOGY, 2004, 5 (03) :272-279

[6] Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1βinhibition [J].

Gernez, Yael ;

de Jesus, Adriana A. ;

Alsaleem, Hanouf ;

Macaubas, Claudia ;

Roy, Amitava ;

Lovell, Daniel ;

Jagadeesh, Karthik A. ;

Alehashemi, Sara ;

Erdman, Laura ;

Grimley, Michael ;

Talarico, Susanna ;

Bacchetta, Rosa ;

Lewis, David B. ;

Canna, Scott W. ;

Laxer, Ron M. ;

Mellins, Elizabeth D. ;

Goldbach-Mansky, Raphaela ;

Weinacht, Katja G. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2019, 144 (04) :1122-+

[7] Structure of the Rho family GTP-binding protein Cdc42 in complex with the multifunctional regulator RhoGDI [J].

Hoffman, GR ;

Nassar, N ;

Cerione, RA .

CELL, 2000, 100 (03) :345-356

[8] A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function [J].

Lam, Michael T. ;

Coppola, Simona ;

Krumbach, Oliver H. F. ;

Prencipe, Giusi ;

Insalaco, Antonella ;

Cifaldi, Cristina ;

Brigida, Immacolata ;

Zara, Erika ;

Scala, Serena ;

Di Cesare, Silvia ;

Martinelli, Simone ;

Di Rocco, Martina ;

Pascarella, Antonia ;

Niceta, Marcello ;

Pantaleoni, Francesca ;

Ciolfi, Andrea ;

Netter, Petra ;

Carisey, Alexandre F. ;

Diehl, Michael ;

Akbarzadeh, Mohammad ;

Conti, Francesca ;

Merli, Pietro ;

Pastore, Anna ;

Mortera, Stefano Levi ;

Camerini, Serena ;

Farina, Luciapia ;

Buchholzer, Marcel ;

Pannone, Luca ;

Cao, Tram N. ;

Coban-Akdemir, Zeynep H. ;

Jhangiani, Shalini N. ;

Muzny, Donna M. ;

Gibbs, Richard A. ;

Basso-Ricci, Luca ;

Chiriaco, Maria ;

Dvorsky, Radovan ;

Putignani, Lorenza ;

Carsetti, Rita ;

Janning, Petra ;

Stray-Pedersen, Asbjorg ;

Erichsen, Hans Christian ;

Horne, AnnaCarin ;

Bryceson, Yenan T. ;

Torralba-Raga, Lamberto ;

Ramme, Kim ;

Rosti, Vittorio ;

Bracaglia, Claudia ;

Messia, Virginia ;

Palma, Paolo ;

Finocchi, Andrea .

JOURNAL OF EXPERIMENTAL MEDICINE, 2019, 216 (12) :2778-2799

[9] Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS [J].

Park, Yong Hwan ;

Wood, Geryl ;

Kastner, Daniel L. ;

Chae, Jae Jin .

NATURE IMMUNOLOGY, 2016, 17 (08) :914-+

[10] Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity [J].

Pfajfer, Laurene ;

Mair, Nina K. ;

Jimenez-Heredia, Raul ;

Genel, Ferah ;

Gulez, Nesrin ;

Ardeniz, Omur ;

Hoeger, Birgit ;

Kostel, Sevgi ;

Madritsch, Christoph ;

Kalinichenko, Artem ;

Ardy, Rico Chandra ;

Gerceker, Bengu ;

Rey-Barroso, Javier ;

Ijspeert, Hanna ;

Tangye, Stuart G. ;

Simonitsch-Klupp, Ingrid ;

Huppa, Johannes B. ;

van der Burg, Mirjam ;

Dupre, Loic ;

Bortug, Kaan .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 142 (05) :1589-+

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