A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis

被引：73

作者：

Sugiura, K. ^{[1
]}

Takeichi, T. ^{[1
,3
]}

Kono, M. ^{[1
]}

Ogawa, Y. ^{[1
]}

Shimoyama, Y. ^{[2
]}

Muro, Y. ^{[1
]}

Akiyama, M. ^{[1
]}

机构：

[1] Nagoya Univ, Grad Sch Med, Dept Dermatol, Showa Ku, Nagoya, Aichi 4668550, Japan

[2] Nagoya Univ, Grad Sch Med, Dept Lab Med, Showa Ku, Nagoya, Aichi 4668550, Japan

[3] Inazawa City Hosp, Dept Dermatol, Inazawa 4928510, Japan

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2012年 / 167卷 / 03期

关键词：

NF-KAPPA-B; ANTAGONIST; MEMBERS;

D O I：

10.1111/j.1365-2133.2012.10953.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100227 [皮肤病学];

摘要：

引用

页码：699 / 701

页数：3

共 9 条

[1]

Opposing activities of two novel members of the IL-1 ligand family regulate skin inflammation [J].

Blumberg, Hal ;

Dinh, Huyen ;

Trueblood, Esther S. ;

Pretorius, James ;

Kugler, David ;

Weng, Ning ;

Kanaly, Suzanne T. ;

Towne, Jennifer E. ;

Willis, Cynthia R. ;

Kuechle, Melanie K. ;

Sims, John E. ;

Peschon, Jacques J. .

JOURNAL OF EXPERIMENTAL MEDICINE, 2007, 204 (11) :2603-2614

[2]

Two novel IL-1 family members, IL-1δ and IL-1ε, function as an antagonist and agonist of NF-κB activation through the orphan IL-1 receptor-related protein 2 [J].

Debets, R ;

Timans, JC ;

Homey, B ;

Zurawski, S ;

Sana, TR ;

Lo, S ;

Wagner, J ;

Edwards, G ;

Clifford, T ;

Menon, S ;

Bazan, JF ;

Kastelein, RA .

JOURNAL OF IMMUNOLOGY, 2001, 167 (03) :1440-1446

[3]

IL-1 family nomenclature [J].

Dinarello, Charles ;

Arend, William ;

Sims, John ;

Smith, Dirk ;

Blumberg, Hal ;

O'Neill, Luke ;

Goldbach-Mansky, Raphaela ;

Pizarro, Theresa ;

Hoffman, H. ;

Bufler, Philip ;

Nold, Marcel ;

Ghezzi, Pietro ;

Mantovani, Alberto ;

Garlanda, Cecilia ;

Boraschi, Diana ;

Rubartelli, Anna ;

Netea, Mihai ;

van der Meer, Jos ;

Joosten, Leo ;

Mandrup-Poulsen, Tom ;

Donath, Marc ;

Lewis, Eli ;

Pfeilschifter, Josef ;

Martin, Michael ;

Kracht, Michael ;

Muehl, H. ;

Novick, Daniela ;

Lukic, Miodrag ;

Conti, Bruno ;

Solinger, Alan ;

Peyman, Kelk ;

van de Veerdonk, Frank ;

Gabel, Chiristopher .

NATURE IMMUNOLOGY, 2010, 11 (11) :973-973

[4]

Interleukin-36-Receptor Antagonist Deficiency and Generalized Pustular Psoriasis [J].

Marrakchi, Slaheddine ;

Guigue, Philippe ;

Renshaw, Blair R. ;

Puel, Anne ;

Pei, Xue-Yuan ;

Fraitag, Sylvie ;

Zribi, Jihen ;

Bal, Elodie ;

Cluzeau, Celine ;

Chrabieh, Maya ;

Towne, Jennifer E. ;

Douangpanya, Jason ;

Pons, Christian ;

Mansour, Sourour ;

Serre, Valerie ;

Makni, Hafedh ;

Mahfoudh, Nadia ;

Fakhfakh, Faiza ;

Bodemer, Christine ;

Feingold, Josue ;

Hadj-Rabia, Smail ;

Favre, Michel ;

Genin, Emmanuelle ;

Sahbatou, Mourad ;

Munnich, Arnold ;

Casanova, Jean-Laurent ;

Sims, John E. ;

Turki, Hamida ;

Bachelez, Herve ;

Smahi, Asma .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (07) :620-628

[5]

IL1HY1:: A novel interleukin-1 receptor antagonist gene [J].

Mulero, JJ ;

Pace, AM ;

Nelken, ST ;

Loeb, DB ;

Correa, TR ;

Drmanac, R ;

Ford, JE .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1999, 263 (03) :702-706

[6]

Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis [J].

Onoufriadis, Alexandros ;

Simpson, Michael A. ;

Pink, Andrew E. ;

Di Meglio, Paola ;

Smith, Catherine H. ;

Pullabhatla, Venu ;

Knight, Jo ;

Spain, Sarah L. ;

Nestle, Frank O. ;

Burden, A. David ;

Capon, Francesca ;

Trembath, Richard C. ;

Barker, Jonathan N. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (03) :432-437

[7]

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5′ splice sites [J].

Sahashi, Kentaro ;

Masuda, Akio ;

Matsuura, Tohru ;

Shinmi, Jun ;

Zhang, Zhujun ;

Takeshima, Yasuhiro ;

Matsuo, Masafumi ;

Sobue, Gen ;

Ohno, Kinji .

NUCLEIC ACIDS RESEARCH, 2007, 35 (18) :5995-6003

[8]

Four new members expand the interleukin-1 superfamily [J].

Smith, DE ;

Renshaw, BR ;

Ketchem, RR ;

Kubin, M ;

Garka, KE ;

Sims, JE .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (02) :1169-1175

[9]

Interleukin (IL)-1F6, IL-1F8, and IL-1F9 signal through IL-1Rrp2 and IL-1RAcP to activate the pathway leading to NF-κB and MAPKs [J].

Towne, JE ;

Garka, KE ;

Renshaw, BR ;

Virca, GD ;

Sims, JE .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (14) :13677-13688

← 1 →