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Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis

Abstract

Background

The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders.

Method

The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013–2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing.

Results

Considering the newly diagnosed patients (n = 1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5%). The putative causative genetic defect was identified in 1014 patients (33.1%) and an autosomal recessive pattern was found in 79.3% of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort.

Conclusions

During a 20-year registration of Iranian PID patients, significant changes have been observed by increasing the awareness of the medical community, national PID network establishment, improving therapeutic facilities, and recently by inclusion of the molecular diagnosis. The current collective study of PID phenotypes and genotypes provides a major source for ethnic surveillance, newborn screening, and genetic consultation for prenatal and preimplantation genetic diagnosis.

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Acknowledgments

We thank the patients who participated in the study and made this research study possible. The authors wish to thank Prof. Raif S. Geha (Harvard Medical School), Prof. Jean-Laurent Casanova (Rockefeller University), and Prof. Alessandro Plebani (University of Brescia) and their teams for performing next-generation sequencing on the patients with combined immunodeficiency, innate immunodeficiency, and antibody deficiency, respectively.

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Correspondence to Asghar Aghamohammadi.

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This study received approval from the Ethics Committee of the Tehran University of Medical Science. Moreover, written informed consent has been obtained from all patients, their parents, or legal guardians.

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The authors declare that they have no conflict of interest.

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Abolhassani, H., Kiaee, F., Tavakol, M. et al. Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis. J Clin Immunol 38, 816–832 (2018). https://doi.org/10.1007/s10875-018-0556-1

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  • DOI: https://doi.org/10.1007/s10875-018-0556-1

Keywords

  • Epidemiology
  • Iran
  • primary immunodeficiency
  • molecular diagnosis