Aims Recently, multisystem inflammatory syndrome in children (MIS‐C) has been recognized in association with coronavirus disease 2019 as a cytokine storm syndrome. MIS‐C presents with symptoms similar to Kawasaki disease and macrophage activation syndrome (MAS). We aimed to better understand this cytokine storm syndrome by comparing the initial laboratory findings of MIS‐C and MAS. Methods Patients who were diagnosed with MAS due to systemic juvenile idiopathic arthritis in our clinic between March 2002 and November 2020 and with MIS‐C between 20 September and 20 October 2020 were enrolled into the study. The medical files of all patients were reviewed retrospectively. Results A total of 13 MAS (9 boys, 4 girls) and 26 MIS‐C (16 boys,10 girls) patients were included in the study. Hemoglobin, absolute neutrophil and lymphocyte counts, C‐reactive protein (CRP), ferritin, fibrinogen and lactate dehydrogenase (LDH) levels showed significant differences between the two groups (P < 0.05). Patients with MAS had lower hemoglobin (10.10 g/dL) and fibrinogen (2.72 g/dL), but higher ferritin (17 863 mg/dL) and LDH (890.61 U/L) at the time of diagnosis. Patients with MIS‐C had higher absolute neutrophil count (12 180/mm3) and CRP (194.23 mg/dL) values, but lower absolute lymphocyte count (1140/mm3) at the time of diagnosis. Left ventricle ejection fraction was significantly lower in the MIS‐C group in echocardiographic evaluation (P < 0.001). Conclusion Ferritin, hemoglobin, LDH, and fibrinogen levels were significantly changed in MAS compared with MIS‐C. However, patients with MIS‐C have more severe signs than MAS, such as cardiac involvement.

BackgroundFamilial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease‐causing mutation. The aim of this study was to evaluate the clinical features and disease severity of FMF patients carrying E148Q mutation.MethodsFiles of FMF patients were retrospectively evaluated. Patients with at least one E148Q mutation were included to the study. The clinical characteristics and disease severity of the patients who were carrying only E148Q mutation were compared with the patients who were compound heterozygous for E148Q and homozygous for M694V mutation.ResultsThe study group comprised 33 patients who were homozygous or heterozygous for E148Q; 34 with compound heterozygous E148Q mutations and 86 patients who had homozygous M694V mutation. Patients who had only E148Q mutation were found to have the oldest mean age of disease onset and lowest mean disease severity score. Attack frequency and colchicine doses were lower in patients with only E148Q mutation as compared with the other two groups. The frequency of clinical findings such as fever, abdominal pain, arthralgia, and arthritis among the three groups was similar.ConclusionFamilial Mediterranean fever patients with only E148Q mutation are presenting with late‐onset and milder disease course despite having similar clinical findings as compared with patients who had other mutations. Finally, we imply that E148Q is a mutation and colchicine treatment should be given.

Objective In this study, it was aimed to evaluate the demographic, clinical and laboratory characteristics of MIS-C patients in our hospital, to share our treatment approach, and to assess the outcomes of short-and long-term follow-up. Methods MIS-C patients who were admitted and treated in our hospital between July 2020 and July 2021 were evaluated. Demographic, clinical, laboratory, and follow-up data were collected from patient records retrospectively. Results A total of 123 patients with MIS-C (median age, 9.6 years) were included the study. Nineteen (15.4%) were mild, 56 (45.6%) were moderate, and 48 (39%) were severe MIS-C. High CRP, ferritin, pro-BNP, troponin, IL-6, and D-dimer values were found in proportion to the severity of the disease (p < 0.001, p < 0.001, p < 0.001, p < 0.001, p = 0.005, p < 0.001), respectively. Two (1.6%) patients died. The mean follow-up period was 7.8 months. Valve failure, left ventricular dysfunction/ hypertrophy, coronary involvement, and pericardial effusion were the most common cardiac pathologies in the short-and long-term follow-up of the patients. In the long-term follow-up, the most common reasons for admission to the hospital were recurrent abdominal pain (14.2%), cardiac findings (14.2%), pulmonary symptoms (8%), fever (7.1%), neuropsychiatric findings (6.2%) and hypertension (3.5%). Neuropsychiatric abnormalities were observed significantly more common in severe MIS-C patients at follow-up (p = 0.016). In the follow-up, 6.2% of the patients required recurrent hospitalization. Conclusion MIS-C is a serious and life-threatening disease, according to short-term outcomes. In addition to the cardiac findings of patients with MIS-C, long-term outcomes such as neuropsychiatric findings, persistent gastrointestinal symptoms, fever and pulmonary symptoms should be monitored. Key Points• In MIS-C patients, attention should be paid not only to cardiac findings, but also to symptoms related to other systems. • Patients should be followed up in terms of neuropsychiatric findings, persistent gastrointestinal symptoms, fever and pulmonary symptoms that may occur during follow-up.

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Autoinflammatory diseases (AIDs) are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes (CAPS) are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticarial syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). CAPS have been associated with gain-of-function variations in NLRP3 (NOD-like receptor family, pyrin containing domain-3). However, a new class of autoinflammatory disease resembling FCAS or MWS has been described in patients with NLRP12 mutations. Here, we report a 6-year-old boy diagnosed with AID who developed an unexpected C3 glomerulopathy during attacks and carried a novel variation in NLRP12. Following treatment with IL (interleukin) 1 targeting agents, all symptoms and inflammation resolved. This is the first case in the literature affected by both autoinflammatory disease and C3 glomerulopathy.

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Background Chronic non‐bacterial osteomyelitis is a chronic sterile inflammatory bone condition. We aimed to describe patients' clinical and radiographic findings and to evaluate their response to therapy and their quality of life. Methods This cross‐sectional study included 18 patients from a single center in Turkey whose clinical, radiological features, and outcomes were reviewed retrospectively. The quality of the patients' lives after treatment was compared with healthy controls using the Pediatric Quality of Life Inventory 4.0. Results The median age of disease onset was 12 years (IQR 10–14 years) and 11 (61.1%) patients were male. The median follow‐up duration was 15 months (IQR 12–22 months). The persistent form of chronic non‐bacterial osteomyelitis was the most common pattern in 15 (83.3%) patients and a recurrent pattern was defined in three (16.7%) patients. The lesions were multifocal in all patients and 15 (83.3%) patients had symmetric distribution in whole‐body magnetic resonance imaging. The most common sites of arthritis were the knee and sacroiliac joints. Methotrexate was used in 16 (88.9%) patients as first‐line therapy. However, some patients were unresponsive to the first‐line therapy and needed tumor necrosis factor‐α inhibitors (55.6%) and bisphosphonates (16.7%). We observed remission in only four (22.2%) patients, and three (16.7%) patients were unresponsive. The patients had a significantly poorer quality of life than controls (P = 0.005). Conclusions Chronic non‐bacterial osteomyelitis is an insidious disease that requires detailed analysis for diagnosis and whole‐body magnetic resonance imaging is an effective tool for its diagnosis. Despite the advanced treatment, patients with chronic non‐bacterial osteomyelitis have a poor quality of life.