Identification of a Homozygous PSTPIP1 Mutation in a Patient With a PAPA-Like Syndrome Responding to Canakinumab Treatment | Zendy

Alexandra Geusau | Zendy; Nadine MothesLuksch | Zendy; Hesam Nahavandi | Zendy; Winfried F. Pickl | Zendy; Carol A. Wise | Zendy; Zahra Pourpak | Zendy; Elisabeth Ponweiser | Zendy; Leopold Eckhart | Zendy; Raute SunderPlaßmann | Zendy

Open Access

Identification of a Homozygous PSTPIP1 Mutation in a Patient With a PAPA-Like Syndrome Responding to Canakinumab Treatment

Author(s) -

Alexandra Geusau,

Nadine MothesLuksch,

Hesam Nahavandi,

Winfried F. Pickl,

Carol A. Wise,

Zahra Pourpak,

Elisabeth Ponweiser,

Leopold Eckhart,

Raute SunderPlaßmann

Publication year - 2013

Publication title -

jama dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.128

H-Index - 166

eISSN - 2168-6084

pISSN - 2168-6068

DOI - 10.1001/2013.jamadermatol.717

Subject(s) - canakinumab , medicine , pyoderma gangrenosum , missense mutation , dermatology , genetics , mutation , gene , pathology , anakinra , disease , biology

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 dominant missense mutations in the proline-serine-threonine phosphatase-interacting protein 1 gene (PSTPIP1) located on chromosome 15. The patient was diagnosed as having features of a PAPA-like syndrome in which cutaneous manifestations, such as pyoderma gangrenosum and acne fulminans, predominated.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research