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July 27, 2025

Unveiling the Genetic and Epidemiological Patterns of Primary Immunodeficiency Diseases (PIDs) in a Cohort of Eastern Iranian Patients

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Authors

MSMohammad SalehiHAHamid AhanchianEKEhsan Ghayoor Karimiani

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Overview

Epidemiological patterns reveal high consanguinity and a diagnostic yield of 82.8% among PID patients, suggesting significant genetic influences.

Key Points

  • Primary immunodeficiency diseases impact over 6 million people, highlighting global public health challenges.
  • The study found 47 novel IEIs and a high consanguinity rate of 76%, leading to an 82.8% diagnostic yield.
  • Exome sequencing and genetic analyses were performed on 99 patients to identify genetic mutations linked to various PIDs.
  • Findings indicate that early diagnosis can reduce morbidity and mortality associated with these complex genetic disorders.

Cite This Study

Salehi et al. (2025) studied this question.

synapsesocial.com/papers/689a0939e6551bb0af8ce799https://doi.org/10.21203/rs.3.rs-6999444/v1
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Clinical implications of rare mutations in Northern Iraqi pediatric immunodeficiency cases: retrospective observational study2026
  2. 2Genetic and Clinical Spectrum of Inborn Errors of Immunity in the Pakistani Population: A Systematic Review2026
  3. 3Opinion: the evolving understanding of polygenic common variable immunodeficiency-like disorders2025
  4. 4Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center2026
  5. 5Retrospective Evaluation of Patients with Primary Immunodeficiency: Five Years of Experience2026