The association between parental consanguinity and primary immunodeficiency diseases: A systematic review and meta‐analysis

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Excerpt

Primary immunodeficiencies (PIDs) are a diverse group of rare, chronic disorders 1 that causes immune dysregulation and imbalance, leading to increased susceptibility to microorganisms and infections, the frequent occurrence of allergy, and predisposition to the development of immunologic disorders, autoimmune diseases, and malignancies 2.
Most primary immunodeficiency diseases are inherited. Advances in molecular biology have shown various primary biologic defects in most of these disorders. The mode of inheritance in most primary immunodeficiency diseases is in one of these ways: X‐linked recessive, autosomal recessive (AR), or autosomal dominant (AD) 3.
Consanguineous marriage—defined as a union between two persons related as second cousins or closer—increases the risk of AR disorders 4. As the probability that the offspring of consanguineous unions will inherit mutated AR gene increases, the risk for recessive disorders is probably higher in the offspring of consanguineous parents 6.
Knowing more about the impacts of consanguineous marriage helps to implement appropriate community programs to improve family health. To provide more evidence on the contribution of consanguineous marriage in primary immunodeficiency diseases (PID), this systematic review, and meta‐analysis, aims to summarize (i) the worldwide prevalence of parental consanguinity among patients with PIDs and (ii) the prevalence odds ratio (POR) for parental consanguinity in patients with PID compared to general population.
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