作者
Slaheddine Marrakchi, Philippe Guigue, Blair R Renshaw, Anne Puel, Xue-Yuan Pei, Sylvie Fraitag, Jihen Zribi, Elodie Bal, Céline Cluzeau, Maya Chrabieh, Jennifer E Towne, Jason Douangpanya, Christian Pons, Sourour Mansour, Valérie Serre, Hafedh Makni, Nadia Mahfoudh, Faiza Fakhfakh, Christine Bodemer, Josué Feingold, Smail Hadj-Rabia, Michel Favre, Emmanuelle Genin, Mourad Sahbatou, Arnold Munnich, Jean-Laurent Casanova, John E Sims, Hamida Turki, Hervé Bachelez, Asma Smahi
发表日期
2011/8/18
期刊
New England Journal of Medicine
卷号
365
期号
7
页码范围
620-628
出版商
Massachusetts Medical Society
简介
Background
Generalized pustular psoriasis is a life-threatening disease of unknown cause. It is characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein, which may be associated with plaque-type psoriasis.
Methods
We performed homozygosity mapping and direct sequencing in nine Tunisian multiplex families with autosomal recessive generalized pustular psoriasis. We assessed the effect of mutations on protein expression and conformation, stability, and function.
Results
We identified significant linkage to an interval of 1.2 megabases on chromosome 2q13-q14.1 and a homozygous missense mutation in IL36RN, encoding an interleukin-36–receptor antagonist (interleukin-36Ra), an antiinflammatory cytokine. This mutation predicts the substitution of a proline residue for leucine at …
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S Marrakchi, P Guigue, BR Renshaw, A Puel, XY Pei… - New England Journal of Medicine, 2011