Global systematic review of primary immunodeficiency registries

Abolhassani H 1 , Azizi G 2 , Sharifi L 1 , Yazdani R 1 , Mohsenzadegan M 1 , Delavari S 1 Show all authors , Sohani M 1 , Shirmast P 1 , Chavoshzadeh Z 3 , Mahdaviani SA 4 , Kalantari A 5 , Tavakol M 2 , Jabbari-Azad F 6 , Ahanchian H 6 , Momen T 7 , Sherkat R 8 , Sadeghi-Shabestari M 9 , Aleyasin S 10 , Esmaeilzadeh H 10 , Al-Herz W 11 , Bousfiha AA 12 , Condino-Neto A 13 , Seppänen M 14 , Sullivan KE 15 , Hammarström L 16 , Modell V 17 , Modell F 17 , Quinn J 17 , Orange JS 17 , Aghamohammadi A 1

Affiliations 

  • 1 Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences , Tehran, Iran
  • 2 Non-Communicable Diseases Research Center, Alborz University of Medical Sciences , Karaj, Iran
  • 3 Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences , Tehran, Iran
  • 4 Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases(NRITLD), Shahid Beheshti University of Medical Sciences , Tehran, Iran
  • 5 Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences , Tehran, Iran
  • 6 Allergy Research Center, Mashhad University of Medical Sciences , Mashhad, Iran
  • 7 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
  • 8 Acquired Immunodeficiency Research Center, Lsfahan University of Medical Sciences , Isfahan, Lran
  • 9 Immunology research center of Tabriz, TB and lung research center of Tabriz, Children Hospital, Tabriz University of Medical Science , Tabriz, Iran
  • 10 Allergy Research Center, Shiraz University of Medical Sciences , Shiraz, Iran
  • 11 Department of Pediatrics, Kuwait University , Kuwait City, Kuwait
  • 12 Laboratoire d'Immunologie Clinique, d'Inflammation Et d'Allergie LICIA, Faculty of Medicine and Pharmacy, Hassan II University , Casablanca, Morocco
  • 13 Department of Immunology, Institute of Biomedical Sciences, University of São Paulo , São Paulo, Brazil
  • 14 Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital , Helsinki, Finland
  • 15 Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia , Philadelphia, PA, USA
  • 16 Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge , Stockholm, Sweden
  • 17 Jeffrey Modell Foundation (JMF) , New York City, NY, USA
Expert Rev Clin Immunol, 2020 07;16(7):717-732.
PMID: 32720819 DOI: 10.1080/1744666X.2020.1801422

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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