. Author manuscript; available in PMC: 2017 Oct 1.

Published in final edited form as: J Mol Med (Berl). 2016 Sep 27;94(10):1111–1127. doi: 10.1007/s00109-016-1465-5

Table 4.

Presence of 1997 ACR SLE Criteria in CANDLE, SAVI, AGS, and MonoSLE

	CANDLE^d	SAVI^d	AGS^e	MonoSLE
1. Malar rash^a butterfly-shaped rash across cheeks and nose	NO	NO	NO	YES
2. Discoid (skin) rash^a raised red patches	NO	NO	NO	YES
3. Photosensitivity: skin rash as result of unusual reaction to sunlight	NO	NO	NO	YES
4. Mouth or nose ulcers: usually painless^a	NO	YES	RARE	YES
5. Arthritis (non-erosive) in two or more joints, along with tenderness, swelling, or effusion.^b	YES	YES	RARE	YES
6. Cardio-pulmonary involvement: inflammation of the lining around the heart (pericarditis)^a and/or lungs (pleuritis)^a	NO	NO	NO	UNK
7. Neurologic disorder^a seizures and/or psychosis	RARE	NO	YES	YES
8. Renal (kidney) disorder^a excessive protein in the urine, or cellular casts in the urine	NO	NO	NO	YES
9. Hematologic (blood) disorder^b:	NO	NO	UNK	UNK
• hemolytic anemia,	NO	NO	UNK	UNK
• low white blood cell count	NO	YES	YES	UNK
• low platelet count	YES	YES	YES	YES
10. Immunologic disorder, antibodies to:	RARE	RARE	RARE	YES
• Anti-double stranded DNA antibodies^c,	RARE	RARE	RARE	YES
• Anti-Sm antibodies^c,	RARE	RARE	RARE	YES
• Antiphospholipid antibodies^b (anticardiolipin IgG/IgM, lupus anticoagulant, false positive Treponemal test)	YES	YES	RARE	YES
11. Antinuclear antibodies (ANA)^b positive test in absence of drugs	YES	YES	RARE	YES

References. SLE Criteria: 61. PRAAS/CANDLE: 3, 13–23, includes 4 previously unpublished patients evaluated or reviewed at NIH, and clinical updates from evaluation at NIH on 8 patients. SAVI: 4, 26–29 with clinical updates on 4 patients, 1 previously unpublished patient evaluated at NIH. MonoSLE: DNASE1 deficiency, n = 2 (10), C1q deficiency, n = 50–100 (9, 82, 85–88), DNASE1L3 deficiency, n = 17 (11).

Four or more of the 11 criteria are needed for diagnosis of SLE. Clinical features that are more specific for SLE and are typically not observed in SAVI are depicted in black. In SLE, these are triggered by immune complex deposition. Features in gray are less specific for SLE and can be triggered by mechanisms other than immune complex deposition (i.e., hematologic manifestations seen in SLE can be caused by autoantibodies directed to cell subsets or by bone marrow suppression aggravated by the release of type I IFN). Antibodies to cardiolipin can often be present in patients with other immune dysregulatory diseases and are less specific for SLE. Rare indicates reported in less than 20 % of cases that report on the feature

Evidence of immune complex deposition has been reported

Multifactorial or nonspecific findings in isolation

Antibodies specific to SLE are detected shortly before the development of specific organ disease

CANDLE: oral ulcers n = 1, pericarditis n = 1, seizures n = 2, nephrotic syndrome unknown etiology n = 1, Coombs positive anemia n = 1, SAVI: oral ulcers in 4/5 with 1 associated with recurrent HSV labialis. ANA titers fluctuate (inconsistently positive) and do not correlate with disease activity in CANDLE n = 12, SAVI n = 8

Seizures are a common feature in AGS as part of primary encephalopathy