E-Mail karger@karger.com Clinical Genetic Aspects of Consanguinity Hum Hered 2014;77:138–143 DOI: 10.1159/000357710 Consanguinity and Primary Immunodeficiencies Waleed Al-Herz a, b Hasan Aldhekri c Mohamed-Ridha Barbouche d Nima Rezaei e, f a Department of Pediatrics, Faculty of Medicine, Kuwait University and b Allergy and Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Kuwait City, Kuwait; c Section of Pediatric Allergy and Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; d Immunology Department, Institut Pasteur de Tunis and University Tunis El-Manar, Tunis, Tunisia; e Research Center for Immunodeficiencies, Children’s Medical Center and f Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran duction of newborn-screening programs for a number of T and B lymphocyte deficiencies will facilitate early diagnosis and therapeutic interventions, which may include hemato- poietic stem cell transplantation and intravenous immuno- globulin treatment. There is a need for the implementation of strategies to increase public awareness of the health risks associated with consanguineous marriage. It should be stressed that genetic counseling should be an important component of the care of patients with PIDs as well as their families. © 2014 S. Karger AG, Basel Introduction Primary immunodeficiencies (PIDs) are a heteroge- neous group of genetic disorders caused by mutations in genes encoding immune system components, which lead to defects in the development and/or function of the im- mune system [1]. Such defects predispose patients to a wide spectrum of clinical manifestations and complica- tions, in particular an increased susceptibility to infections, autoimmune diseases, lymphoproliferation and malignan- Key Words Consanguinity · Primary immunodeficiencies · Genes · Genetic counseling Abstract Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consan- guineous marriage. Reports about PIDs from these areas have demonstrated a peculiar prevalence of more severe forms of diseases compared to other regions, and patients born to consanguineous parents have increased rates of morbidity and mortality compared to other patients. Indi- viduals at high risk of having a child with a PID who wish to have a healthy child have limited options, these include pre- natal diagnosis and pre-implantation genetic diagnosis. However, these options require a collaborative team of spe- cialists and may not always be implemented due to geo- graphic, religious, financial or social factors. The recent intro- Published online: July 29, 2014 Waleed Al-Herz, MD Department of Pediatrics, Faculty of Medicine Kuwait University 24923 Safat, Kuwait City 13110 (Kuwait) E-Mail wemh  @  hotmail.com © 2014 S. Karger AG, Basel 0001–5652/14/0774–0138$39.50/0 www.karger.com/hhe