Leonardi Lucia, Rivalta Beatrice, Cancrini Caterina, Chiappini Elena, Cravidi Claudio, Caffarelli Carlo, Manti Sara, Calvani Mauro, Martelli Alberto, Miraglia Del Giudice Michele, Duse Marzia, Marseglia Gian Luigi, Cardinale Fabio
Maternal, Infantile and Urological Sciences Department, Sapienza University of Rome, Rome, Italy.
Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy; Immunology and Infectious Disease Unit, University Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy.
Acta Biomed. 2020 Sep 15;91(11-S):e2020010. doi: 10.23750/abm.v91i11-S.10314.
Primary immunodeficiencies (PIDs) are inherited disorders classically characterized by increased susceptibility to infections. Nevertheless, in the last two decades, genomic analysis (such as NGS) coupled with biochemical and cellular studies led to a more accurate definition for a growing number of novel genetic disorders associated with PIDs. This revealed new aspects of the immune system and its function and regulation within these diseases. In particular, it has been clarified that the clinical features of PIDs are much broader that originally thought and extend beyond an increased susceptibility to infections. More specifi- cally, immune dysregulation is very often described in novel characterized PIDs and can lead to multiple autoimmune diseases, lymphoproliferation and malignancies. If not promptly diagnosed, these could negatively impact patient's prognosis. The aim of this review is to increase the awareness of recently discovered PIDs, characterized predominantly by immune dysregulation phenotypes. Findings highlighted in this review suggest screening for immunodeficiency in patients with lymphoproliferation or early onset/multiple autoimmune diseases. Prompt diagnosis would potentially allow most successful treatment and clinical outcome for patients with PIDs.
原发性免疫缺陷病（PIDs）是一类遗传性疾病，其典型特征是易患感染性疾病。然而，在过去二十年中，基因组分析（如二代测序）与生化及细胞研究相结合，使得越来越多与原发性免疫缺陷病相关的新型遗传疾病得到了更准确的定义。这揭示了免疫系统在这些疾病中的新特征及其功能和调节机制。特别是，现已明确原发性免疫缺陷病的临床特征比最初认为的要广泛得多，不仅限于易患感染性疾病。更具体地说，免疫失调在新发现的原发性免疫缺陷病中经常出现，可导致多种自身免疫性疾病、淋巴细胞增殖和恶性肿瘤。如果不及时诊断，这些情况可能会对患者的预后产生负面影响。本综述的目的是提高对最近发现的、主要以免疫失调表型为特征的原发性免疫缺陷病的认识。本综述强调的研究结果表明，应对淋巴细胞增殖或早发/多种自身免疫性疾病患者进行免疫缺陷筛查。及时诊断可能会为原发性免疫缺陷病患者带来最成功的治疗和临床结果。
