Supplementary Material for: Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 Infection

Unusual, severe infections or inflammatory episodes in newborns and infants are largely unexplained and often attributed to immature immune responses. Inborn errors of immunity (IEI) are increasingly recognized as the etiology of life-threatening inflammatory and infectious diseases in infancy. We describe a patient with a unique neonatal-onset Familial Mediterranean Fever (FMF) due to compound heterozygous variants in MEFV, presenting as pleuritis following human parainfluenza virus-4 infection. Diagnostic challenges of FMF in infancy include the interpretation of the attacks as infectious episodes. Newborns and infants with acute, recurrent, or chronic, unusually severe infectious or inflammatory conditions should be screened for IEI, including both disorders with defective immunological responses and autoinflammatory disorders.

新生儿及婴幼儿出现的罕见重症感染或炎症发作，其病因大多不明，常被归因于免疫系统发育未成熟。原发性免疫缺陷病（Inborn errors of immunity, IEI）现已越来越多地被认为是婴儿期危及生命的炎症性与感染性疾病的病因。本研究报道1例因MEFV基因复合杂合变异导致的独特新生儿起病型家族性地中海热（Familial Mediterranean Fever, FMF）患者，其临床表现为人类副流感病毒4型（human parainfluenza virus-4）感染后并发胸膜炎。婴儿期家族性地中海热的诊断难点在于易将其发作误诊为感染性病症。对于出现急性、复发性或慢性罕见重症感染或炎症病症的新生儿及婴幼儿，应开展原发性免疫缺陷病筛查，涵盖免疫应答缺陷类疾病与自身炎症性疾病两大类。