Global systematic review of primary immunodeficiency registries.,Expert Review of Clinical Immunology

当前位置： X-MOL 学术 › Expert Rev. Clin. Immunol. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Global systematic review of primary immunodeficiency registries.
Expert Review of Clinical Immunology ( IF 4.4 ) Pub Date : 2020-09-17 , DOI: 10.1080/1744666x.2020.1801422
Hassan Abolhassani _{1,

2} , Gholamreza Azizi ₃ , Laleh Sharifi _{1,

4} , Reza Yazdani ₁ , Monireh Mohsenzadegan ₁ , Samaneh Delavari _{1,

5} , Mahsa Sohani ₁ , Paniz Shirmast ₁ , Zahra Chavoshzadeh ₆ , Seyed Alireza Mahdaviani ₇ , Arash Kalantari ₈ , Marzieh Tavakol ₃ , Farahzad Jabbari-Azad ₉ , Hamid Ahanchian ₉ , Tooba Momen ₁₀ , Roya Sherkat ₁₁ , Mahnaz Sadeghi-Shabestari ₁₂ , Soheila Aleyasin ₁₃ , Hossein Esmaeilzadeh ₁₃ , Waleed Al-Herz _{14,

15} , Ahmed Aziz Bousfiha _{16,

17,

18} , Antonio Condino-Neto _{19,

20} , Mikko Seppänen _{21,

22,

23} , Kathleen E Sullivan _{24,

25} , Lennart Hammarström ₂ , Vicki Modell ₂₆ , Fred Modell ₂₆ , Jessica Quinn ₂₆ , Jordan S Orange _{26,

27} , Asghar Aghamohammadi _{1,

28,

29}

Affiliation

Research Center for Immunodeﬁciencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences , Tehran, Iran.
Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge , Stockholm, Sweden.
Non-Communicable Diseases Research Center, Alborz University of Medical Sciences , Karaj, Iran.
Uro-Oncology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Department of Medical Laboratory Sciences, Faculty of Allied Medical Sciences Iran University of Medical Sciences, Tehran, Iran.
Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences , Tehran, Iran.
Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases(NRITLD), Shahid Beheshti University of Medical Sciences , Tehran, Iran.
Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences , Tehran, Iran.
Allergy Research Center, Mashhad University of Medical Sciences , Mashhad, Iran.
Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences , Isfahan, Iran.
Acquired Immunodeficiency Research Center, Lsfahan University of Medical Sciences , Isfahan, Lran.
Immunology research center of Tabriz, TB and lung research center of Tabriz, Children Hospital, Tabriz University of Medical Science , Tabriz, Iran.
Allergy Research Center, Shiraz University of Medical Sciences , Shiraz, Iran.
Department of Pediatrics, Kuwait University , Kuwait City, Kuwait.
Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital , Kuwait City, Kuwait.
Laboratoire d'Immunologie Clinique, d'Inflammation Et d'Allergie LICIA, Faculty of Medicine and Pharmacy, Hassan II University , Casablanca, Morocco.
Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, Hassan II University , Casablanca, Morocco.
The African Society for Immunodeficiencies (ASID) Registry.
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo , São Paulo, Brazil.
The Latin American Society for Immunodeficiencies (LASID) Registry.
Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital , Helsinki, Finland.
Rare Disease Center and Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital , Helsinki, Finland.
European Society for Immunodeficiencies (ESID) Registry.
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia , Philadelphia, PA, USA.
The United States Immunodeficiency Network (USIDNET) Registry.
Jeffrey Modell Foundation (JMF) , New York City, NY, USA.
Department of Pediatrics, Columbia University College of Physicians and Surgeons , New York, NY, USA.
Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science , Tehran, Iran.
Asia Pacific Society for Immunodeficiencies (APSID) Registry.

Introduction

During the last 4 decades, registration of patients with primary immunodeficiencies (PID) has played an essential role in different aspects of these diseases worldwide including epidemiological indexes, policymaking, quality controls of care/life, facilitation of genetic studies and clinical trials as well as improving our understanding about the natural history of the disease and the immune system function. However, due to the limitation of sustainable resources supporting these registries, inconsistency in diagnostic criteria and lack of molecular diagnosis as well as difficulties in the documentation and designing any universal platform, the global perspective of these diseases remains unclear.

Areas covered

Published and unpublished studies from January 1981 to June 2020 were systematically reviewed on PubMed, Web of Science and Scopus. Additionally, the reference list of all studies was hand-searched for additional studies. This effort identified a total of 104614 registered patients and suggests identification of at least 10590 additional PID patients, mainly from countries located in Asia and Africa. Molecular defects in genes known to cause PID were identified and reported in 13852 (13.2% of all registered) patients.

Expert opinion

Although these data suggest some progress in the identification and documentation of PID patients worldwide, achieving the basic requirement for the global PID burden estimation and registration of undiagnosed patients will require more reinforcement of the progress, involving both improved diagnostic facilities and neonatal screening.

中文翻译：

初级免疫缺陷登记处的全球系统评价。

介绍

在过去的 4 年里，原发性免疫缺陷 (PID) 患者的登记在全球这些疾病的不同方面发挥了重要作用，包括流行病学指标、政策制定、护理/生活质量控制、促进基因研究和临床试验以及提高我们对疾病自然史和免疫系统功能的理解。然而，由于支持这些注册的可持续资源有限，诊断标准不一致，缺乏分子诊断，以及记录和设计任何通用平台的困难，这些疾病的全球视角仍不清楚。

覆盖区域

1981 年 1 月至 2020 年 6 月已发表和未发表的研究在 PubMed、Web of Science 和 Scopus 上进行了系统审查。此外，所有研究的参考列表都是手工搜索的以获取更多研究。这项工作共确定了 104614 名注册患者，并建议确定至少 10590 名额外的 PID 患者，主要来自亚洲和非洲的国家。在 13852 名（所有登记的 13.2%）患者中发现并报告了已知导致 PID 的基因中的分子缺陷。