Global systematic review of primary immunodeficiency registries
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
Affiliations
Affiliations
- 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.
Abstract
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.
Keywords: Primary immunodeficiencies; burden of disease; ethnicity; molecular diagnosis; prevalence.
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