Details

Autor(en) / Beteiligte

• Marrakchi, Slaheddine
• Guigue, Philippe
• Renshaw, Blair R
• Puel, Anne
• Pei, Xue-Yuan
• Fraitag, Sylvie
• Zribi, Jihen
• Bal, Elodie
• Cluzeau, Céline
• Chrabieh, Maya
• Towne, Jennifer E
• Douangpanya, Jason
• Pons, Christian
• Mansour, Sourour
• Serre, Valérie
• Makni, Hafedh
• Mahfoudh, Nadia
• Fakhfakh, Faiza
• Bodemer, Christine
• Feingold, Josué
• Hadj-Rabia, Smail
• Favre, Michel
• Genin, Emmanuelle
• Sahbatou, Mourad
• Munnich, Arnold
• Casanova, Jean-Laurent
• Sims, John E
• Turki, Hamida
• Bachelez, Hervé
• Smahi, Asma

Titel

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

Ist Teil von

• The New England journal of medicine, 2011-08, Vol.365 (7), p.620-628

Ort / Verlag

Waltham, MA: Massachusetts Medical Society

Erscheinungsjahr

2011

Quelle

MEDLINE

Beschreibungen/Notizen

• A study of families from southern Tunisia affected by general pustular psoriasis uncovered the genetic cause of their disease: a mutation affecting the function of the interleukin-36–receptor antagonist. Psoriasis is a chronic inflammatory skin disease affecting 2 to 3% of persons of European descent. 1 Psoriasis vulgaris, the most common form of the disease, accounts for 80% of cases and has a strong, albeit complex, genetic component. 2 Numerous chromosomal loci have been implicated in genomewide association studies, but analyses of these loci have yielded only a few candidate genes, which mediate inflammatory cytokine signaling and adaptive immune responses. 3 – 5 The disease follows mendelian transmission in a small minority of families. Generalized pustular psoriasis is a life-threatening, multisystemic inflammatory disease involving repeated flare-ups of sudden onset, which are characterized by . . .