The Origins of the First Reported Cases of the Primary Immunodeficiency Diseases

  • Seyed Erfan Rasouli Research Center of Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  • Parisa Amirifar Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
Keywords: Primary Immune Deficiency; Inborn Errors of Immunity; Consanguinity; Origin


Background: Inborn Errors of Immunity (IEI) or Primary Immunodeficiency Disorders (PID), are heterogeneous diseases with defects on the components of the immune system. We have provided information about the consanguinity and origins of over 400 affected patients for the first time.

Methods: To study the genes, we used the classification tables provided by the IUIS (the International Union of Immunological Societies) in 2020, that documents the key clinical and laboratory features of more than 400 inborn errors of immunity.

Results: We have identified the national origins of 301 cases with a known gene, while national origins’ information of the 90 other genes (90 cases) was left incomplete, due to the unavailability of the first case reports or the fail to mention the patients’ origin in the article publication of the first report. Among the 301 genes, Asia has the largest geographical dispersion with 103 reported cases. We found that the 101 first case reports, were identified in more than one patient, regardless of the geography they live in. Our survey demonstrated that out of the 165 first reported cases with genetic defects resulted from a consanguineous marriage, 112 cases were identified in Asia.

Conclusions: This report provides valuable information on the geographical data and the prevalence of the various genetic disorders, worldwide. Also, by providing information related to parental consanguinity of the first reported cases with a genetic defect, valuable information about inborn errors of immunity, will be accessible for the researchers, which can be used effectively in future studies.