Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.

Background: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (OMIM 604416) is a rare autosomal dominant inherited autoinflammatory syndrome characterized by pyogenic sterile arthritis and less frequently accompanied by pyoderma gangrenosum and acne. It is associated with do...

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Publicado en:	JAMA Dermatology Vol. 149; no. 2; pp. 209 - 216
Autores principales:	Geusau, Alexandra, Mothes-Luksch, Nadine, Nahavandi, Hesam, Pickl, Winfried F, Wise, Carol A, Pourpak, Zahra, Ponweiser, Elisabeth, Eckhart, Leopold, Sunder-Plassmann, Raute
Formato:	case study Journal Article
Publicado:	American Medical Association Feb2013
Acceso en línea:	Ver este registro en EBSCOhost