Article
Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).
Arthritis and rheumatism - 1 Jun 2012
Demidowich Andrew P, Freeman Alexandra F, Kuhns Douglas B, Aksentijevich Ivona, Gallin John I, Turner Maria L, Kastner Daniel L, Holland Steven M
Abstract excerpt
OBJECTIVE: To describe the genotypes, phenotypes, immunophenotypes, and treatments of PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne), a rare autoinflammatory disease, in 5 patients. METHODS: Clinical information was gathered from medical records and through interviews with 5 patients from 4 kindreds. PSTPIP1 (CD2BP1) exon 10 and exon 11 sequencing was performed in each patient....
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