Romano Roberta, Cillo Francesca, Grilli Laura, Ciaccio Alessio, Bufalo Lorenzo, Toriello Elisabetta, De Rosa Antonio, Rosano Carmen, Cirillo Emilia, Blasio Giancarlo, Comegna Marika, Di Domenico Carmela, Castaldo Giuseppe, Pignata Claudio, Giardino Giuliana
Department of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, Italy.
Centre for Advanced Biotechnology (CEINGE), 80131 Naples, Italy.
Life (Basel). 2024 Dec 28;15(1):20. doi: 10.3390/life15010020.
MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of childhood mortality due to limited access to healthcare services. We describe three unrelated patients from the Campania region in Italy with MyD88 deficiency, all belonging to Roma descent and displaying severe or recurrent infections in early infancy. They underwent a comprehensive immunological work-up including targeted next-generation sequencing for IEIs that identified a homozygous pathogenic in-frame deletion c.157_159del p.(Glu53del) in gene, already described in this ethnic group, suggesting a founder effect. A high level of alert should be kept in patients of Roma ethnicity with early onset severe infections. Moreover, being associated with increased Immunoglobulin E (IgE) levels, this condition should be included in the differential diagnosis of Hyper-IgE syndromes.
髓样分化因子88（MyD88）缺陷是一种罕见的先天性免疫缺陷病（IEI），其特征是易患化脓性感染且无明显炎症迹象。报告的患者中有一半属于罗姆族，这是一个主要生活在欧洲的游牧民族，由于获得医疗服务的机会有限，儿童死亡率较高。我们描述了来自意大利坎帕尼亚地区的三名无血缘关系的MyD88缺陷患者，他们均为罗姆族后裔，在婴儿早期均出现严重或反复感染。他们接受了全面的免疫检查，包括针对IEIs的靶向二代测序，结果在该基因中鉴定出一个纯合致病性框内缺失c.157_159del p.(Glu53del)，该缺失已在该族群中被描述，提示存在奠基者效应。对于罗姆族且早期出现严重感染的患者应保持高度警惕。此外，由于该疾病与免疫球蛋白E（IgE）水平升高有关，应将其纳入高IgE综合征的鉴别诊断。
