Rare Autoinflammatory Diseases: A Single Center Experience of 47 Patients

Abstract

Autoinflammatory diseases include a group disease characterized by recurrent systemic inflammatory attacks due to failure in the regulation of the innate immune system. The beginning time of autoinflammatory disease are the most commonly in childhood. Autoinflammatory disease which having different clinical forms are rare, therefore diagnosis is often delayed. To determine the clinical, laboratory and radiological characteristics of children with rare autoinflammatory diseases and in which patients to consider autoinflammatory disease. Forty seven patients diagnosed with rare autoinflammatory diseases between 2010 and 2020 were analyzed retrospectively. Demographic characteristics, clinical courses, laboratory and imaging findings of the patients were recorded. Forty-seven with rare autoinflammatory patients evaluated. Twenty-three patients had Chronic Nonbacterial Osteomyelitis (CNO), seven patients had Mevalonate Kinase Deficiency (MKD), six patients had Blau Syndrome / Early-Onset Sarcoidosis (BS/EOS) Syndrome, three patients had Cryopyrin-associated periodic fever syndrome (CAPS), three patients had Autoinflammatory Vasculitis, one patient had Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome, one patient had Neonatal Onset Pancytopenia, Autoinflammation, Rash and Episodic HLH (NOARCH) syndrome. Three of our patients were being followed up with a diagnosis of undiferantiated systemic autoinflammatory disease (uSAID).Autoinflammatory diseases may have different presentations. Steril and recurrent inflammation should be warning clinicians.