Table 1.

Summary of PSTPIP1 Mutation Screening for Cases of Putative PAPA Syndrome. Cases were screened in the order given. The last three cases were accepted for screening based on the presence of three or more features of PAPA syndrome. *Exons 10 and 11 only were screened.

Subject	Country of Origin	Sex	Family History	Onset	Clinical Characteristics	PSTPIP1 Mutation
1	Spain	M	affected brother, mother	Child	arthritis; psoriasis; pyoderma gangrenosum	A230T (confirmed in affected brother)
2	Italy	M	mother mildly affected	Child	“consistent with PAPA syndrome”	Negative
3	USA	M	negative	Adult	inflammations around surgical incisions-pyoderma gangrenosum? Subsequent severe bleeding. Responsive to cortico-steroids	Negative
4	USA	F	multiple individuals with reported arthritis, fibromyalgia, diabetes mellitus	7	severe pauci-articular corticosteroid responsive arthritis; recurrent destructive pyoderma gangrenosumat age 11; recent dep venous thrombosis, pulmonary hypertension and congestive heart failure	None detected in screens of exon 10 or 11
5	Canada	M	undetermined; father’s history incomplete	1	Recurrent sterile pyogenic arthritis in knee; fever, synovial expansion into muscle above and below knee	A230T
6	New Zealand	M	positive with apparent dominant inheritance	1.5	Recurrent pyogenic arthritis	E250Q (confirmed in affected parent)
7	USA	M	mother with positive ANA and acne	14	arthritis in fingers, toes, and large joints; severe acne; ulcerated lesions bilaterally on hands, forearms, elbows described as pyoderma gangrenosum; aphthous ulcers; negative laboratory findings	None detected in screens of exons 10 and 11
8	France (Toulouse)	M	negative	?	recurrent arthritis of knees; painful involvement of chest, lower back, and sacrum regions; acute episodic abdominal pain and fever; severe cystic acne; recurrent pyoderma of axillae, groin, and face	Negative