Immunology Department, Institut Pasteur de Tunis, Tunisia.
Ann N Y Acad Sci. 2011 Nov;1238:42-52. doi: 10.1111/j.1749-6632.2011.06260.x.
The study of inbred populations has contributed remarkably to the description of new autosomal recessive primary immunodeficiencies (PIDs). Here, we examine the pattern of PIDs in North African populations and assess the impact of highly prevalent consanguinity. This review reports on the current status of pediatricians' awareness of PIDs in Egypt, Morocco, and Tunisia, where awareness of PIDs is relatively recent. The phenotypic distribution of PIDs is reported and compared among the three countries and with other populations. Data analysis reveals a prevalence of autosomal recessive forms and a peculiar distribution of major PID categories, particularly more combined immunodeficiencies than antibody disorders. In these endogamous communities, molecular diagnosis is critical to developing a genetic-based preventive approach. The organization of diagnosis and care services in these resource-limited settings faces many obstacles. Autosomal recessive PIDs are overrepresented; thus, it is critical to continue investigation of these diseases in order to better understand the underlying mechanisms and to improve patient care.
近交系群体的研究为描述新的常染色体隐性原发性免疫缺陷（PID）做出了重要贡献。在这里，我们研究了北非人群中 PID 的模式，并评估了高度流行的近亲婚配的影响。本综述报告了儿科医生在埃及、摩洛哥和突尼斯对 PID 的认识现状，在这些国家，对 PID 的认识相对较新。报告了 PID 的表型分布，并在三个国家之间进行了比较，并与其他人群进行了比较。数据分析显示，常染色体隐性形式的流行程度以及主要 PID 类别分布的特殊性，特别是联合免疫缺陷比抗体疾病更为常见。在这些近亲婚配的社区中，分子诊断对于制定基于遗传的预防方法至关重要。在这些资源有限的环境中，诊断和护理服务的组织面临着许多障碍。常染色体隐性 PID 更为常见；因此，继续研究这些疾病以更好地了解潜在机制并改善患者护理至关重要。
