Significance: In this report we identify genetic susceptibility variants for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, the most common periodic fever syndrome in children. PFAPA shares risk loci atIL12A,STAT4, IL10, andCCR1-CCR3with Behçet’s disease and recurrent aphthous stomatitis, defining a family of Behçet’s spectrum disorders. DifferentialHLAassociations along this spectrum may determine where individual phenotypes fall among the Behçet’s spectrum disorders.

Objective.: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease. The American College of Rheumatology (ACR) 1997, Systemic Lupus International Collaborating Clinics (SLICC) 2012, and European League Against Rheumatism (EULAR)/ACR 2019 SLE classification criteria are formed based on data mainly from adult patients. We aimed to test the performances of the SLE classification criteria among pediatric patients with SLE.Methods.: Pediatric patients with SLE (n = 262; 80.9% female) were included from 3 different centers in Turkey. As controls, 174 children (60.9% female) with other diseases who had ANA (antinuclear antibody) test results were included. The gold standard for SLE diagnosis was expert opinion.Results.: The sensitivities of the ACR 1997, SLICC 2012, and EULAR/ACR 2019 criteria were 68.7%, 95.4%, and 91.6%, respectively. The specificities of the ACR 1997, SLICC 2012, and EULAR/ACR 2019 criteria were 94.8%, 89.7%, and 88.5%, respectively. Eighteen patients with SLE met the SLICC 2012 but not the EULAR/ACR 2019 criteria. Among these, hematologic involvement was prominent (n = 13; 72.2%). Eight patients with SLE fulfilled the EULAR/ACR 2019 but not the SLICC 2012 criteria. Among these, joint involvement was prominent (n = 6; 75%).Conclusion.: To our knowledge, this is the largest cohort study of pediatric SLE to test the performances of all 3 classification criteria. The SLICC 2012 criteria yielded the best sensitivity, whereas the ACR 1997 criteria had the best specificity. SLICC 2012 criteria performed better than EULAR/ACR 2019 criteria. Separation of different hematological manifestations in the SLICC 2012 criteria might have contributed to the higher performance of this criteria set.

Childhood-onset systemic lupus erythematosus (SLE) is more severe than adult-onset disease, including more frequent kidney involvement. This study aimed to investigate baseline clinical features, treatment modalities, short- and long-term renal outcomes of pediatric patients with lupus nephritis (LN). This study enrolled 53 LN patients out of 102 childhood-onset SLE patients followed at Hacettepe University between 2000-2020. The demographic and clinical data were reviewed retrospectively from the medical charts and electronic records. All SLE patients with renal involvement underwent renal biopsy either at the time of diagnosis or during follow-up. The median age at onset of SLE was 13.3 (IQR : 10.4-15.8) years. The median follow-up duration was 43.1 (IQR : 24.3-69.3) months. Of the 102 SLE patients, 53 patients (52%) had lupus nephritis (LN). The most frequent histopathological class was class IV LN (54.7%), followed by class III LN (22.6%). The proportion of patients who achieved either complete or partial remission were 77.3% and 73% at 6 and 12 months, respectively. In the overall LN cohort, 5- and 10-year renal survival rates were 92% and 85.7%, respectively. The remission rate at 6th month was significantly higher in Mycophenolate mofetil (MMF) and Cyclophosphamide (CYC) treated groups than other combination therapies (p = 0.02). Although no difference was found between the CYC and MMF response rates (p = 0.57), in the proliferative LN (Class III and IV), the vast majority of class IV patients (%79) received CYC as induction threapy. There was no difference between the response rates in any treatment regimens at 12th month (p = 0.56). In the multivariate analysis; male gender, requiring dialysis at the time of LN diagnosis, failure to achieve remission at 6^th and at 12 ^th months were found to be associated with poor renal outcome. Our study demonstrated that male gender, failure to achieve remission at 6^th and at 12 ^th months, and requiring dialysis at the time of diagnosis were the best predictors of poor renal outcome. Therefore, appropriate and agressive management of pediatric LN is essential to achieve and maintain remisson.

Clinical aspects; Authors: E.C. Bolek, U. Kaya Akca, A. Sari, E. Sag, S. Demir, L. Kilic, Y.Z. Sener, H.H. Aykan, E.B. Kaya, Y. Bilginer, A. Akdogan, S. Kiraz, O. Karadag, S. Ozen

Background/purpose: To assess EDI-OCT (enhanced depth imaging optical coherence tomography) of choroid for inflammatory signs in children with polyarteritis nodosa (PAN) and adenosine deaminase-2 deficiency (DADA-2). Methods: In this cross-sectional study conducted between June 2017 and September 2018, we evaluated children diagnosed with PAN (n = 11) and DADA-2 (n = 4) and an age- and sex-matched control group (n = 15). Demographic and laboratory data were retrospectively analyzed from patient charts. Disease activity was assessed using the pediatric vasculitis activity score (PVAS). Choroidal images were obtained with spectral domain-OCT to measure choroidal thickness (ChT) at 5 points (750 and 1500 μm from the foveal center in the temporal and nasal quadrants and beneath the fovea), and to calculate the total subfoveal choroidal area (TCA), luminal area (LA), stromal area (SA), and the choroidal vascularity index (CVI). Results: The median (min-max) age was 8 (4–16) years in PAN patients, 6 (5–16) years in DADA-2 patients and 8 (8–10) years in control group at the OCT visit (p = 0.214). The ChT at 3 points and the TCA, LA, and SA were higher in children with both PAN and DADA-2 patients compared to those of the control group (p < 0.0001, p = 0.049, p = 0.007, p = 0.007, p = 0.006, p = 0.033, respectively). The CVI was similar in both groups. No association was observed between the OCT findings, PVAS, and the erythrocyte sedimentation rate, and serum leukocyte and C-reactive protein levels. Conclusion: Similar CVI scores were obtained from PAN and DADA2 patients under treatment and from healthy controls. Increased subfoveal ChT without any other signs of ocular involvement may suggest choroidal thickening as a sign of mild subclinical inflammation.