Table.

Summary of Clinical Presentations and Laboratory Findings of PRAAS

	Our patient	CANDLE syndrome (n = 9)	NNS (n = 7)	JASL (n = 3)	JMP (n = 3)
Clinical presentations
Age of onset	3m	Early infancy	Infancy	1M or 3 Y	N/A
Recurrent fever	Yes	Yes	Yes	Yes	No
Arthritis	Yes	Yes	Yes	Yes	Yes
Skin eruptions	Erythematous nodules	Annular plaques Violacious eyelid	Heliotrope-like periorbital rash in 4/7 patients Nodular erythema in all 7 patiens	Nodular erythema	Erythematous maculopapular and nodules
Low weight and height	Yes	7/9	1/7	ND
Low IQ	Yes	ND	1/7	1/3	Yes
Seizures	No	ND	ND	ND	Yes
Macroglossia	No	ND	ND	Yes	Yes
Anemia	Yes	8/9	6/7	ND	ND
WBC	Low nl range	Mild leukocytosis at early age and leukopenia later	ND	ND	ND
Inflammatory disease and autoimmunity
Autoantibodies	↑↑ANA & ANCA	c-ANCA and ANA in 3/9 (two converted to normal)	ANCA, dsDNA and SS-A in 5/7	Undetectable	nl
Elevated ESR/CRP	Yes	Yes	Yes	Yes	Yes
Elevated CPK	Yes	ND	4/7	Normal	ND
Cytokine levels	↑↑ IL-6, nl TNFα, IL-1β, IP-10↑	↑ IL-6 and IP-10 in 3/9	↑↑ IL-6& IP-10, nl IFNγ.	↑ IL-6	↑ IFNγ, ↑ IL-6, ↑ IL-8
Hyper-γ-globulinemia	↑↑ IgE & G; nl IgA &D	Normal	7/7	↑↑ IgA & G 3/3	ND
Organs involved
Lipodystrophy	Yes	Yes	Yes	Yes	Yes
Hepatomegaly	Yes	7/9	6/7	Yes	Yes
Splenomegaly	Yes	3/9
Cardiac disease	No	ND	ND	2/3	ND
Hypertension	No	2/9	ND	No	ND
Myositis/muscle atrophy	Yes	Yes	Yes	Yes	Yes
Elevated LFTs	Yes	8/9	ND	ND	Yes
Dyslipidemia	No	6/9	4/7	No	Yes
Elevated TSH	Yes	2/9	ND	ND	ND
Basal ganglia calcification	Yes	2/6	6/7	2/3	3/3

Nl, normal; ND, not described