Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations

IMPORTANCE: We found CARD14 mutations (2 de novo novel mutations and another previously reported mutation) in 3 of 3 patients with pityriasis rubra pilaris (PRP) type V, but not in patients with PRP of other types. Our findings, combined with the published literature, suggest that type V PRP, both f...

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Veröffentlicht in:	JAMA dermatology (Chicago, Ill.) Ill.), 2017-01, Vol.153 (1), p.66-70
Hauptverfasser:	Takeichi, Takuya, Sugiura, Kazumitsu, Nomura, Toshifumi, Sakamoto, Taiko, Ogawa, Yasushi, Oiso, Naoki, Futei, Yuko, Fujisaki, Aki, Koizumi, Akiko, Aoyama, Yumi, Nakajima, Kimiko, Hatano, Yutaka, Hayashi, Kei, Ishida-Yamamoto, Akemi, Fujiwara, Sakuhei, Sano, Shigetoshi, Iwatsuki, Keiji, Kawada, Akira, Suga, Yasushi, Shimizu, Hiroshi, McGrath, John A, Akiyama, Masashi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult CARD Signaling Adaptor Proteins - genetics Child Female Guanylate Cyclase - genetics Humans Inflammation - genetics Male Membrane Proteins - genetics Mutation Pityriasis Rubra Pilaris - classification Pityriasis Rubra Pilaris - genetics Pityriasis Rubra Pilaris - pathology Young Adult
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