Primary immunodeficiencies in highly consanguineous North African populations

Abstract

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.

Effects of family history and consanguinity in primary immunodeficiency diseases in children in Qatar

“…Since PID is a heterogeneous group of disorders [1], the relationship of consanguinity and PID has explored in different studies and reviews [10][11][12][13][14][15].…”

“…During the last few years, reports from communities with high rates of consanguinity indicate high rate of PID in the following communities: Saudi Arabia [9], Egypt [10], Iran [11], Kuwait [12], Morocco [13], Oman [14], Tunisia [13], Turkey [15]. With the high consanguinity rate in the Qatari population, genetic disorders and congenital birth defects were found to be relatively high for the population size of the country [5].…”

Isolation of poliovirus shedding following vaccination in children with antibody deficiency disorders

“…Although considered rare disorders, their presence is anticipated at higher rates because of the high consanguinity rates and in-breeding in the North African community [17]. Incidence of predominantly antibody disorders is estimated at around 56% of PID disorders according to the European Society of Immunodeficiency Disorders Registry [18].…”

Collaborating to Improve Quality of Life in Primary Immunodeficiencies: World PI Week, 2013

“…The Moroccan Society for Primary Immunodeficiencies, the Hajar Association and the Faculty of Sciences of Ben M'sik University (Casablanca) have also collaborated to provide PID training, including the 1st PID Spring School held in April. With regard to research, in 2011, Ridha Barbouche and colleagues published a profile of PIDs in North Africa (Morocco, Tunisia and Egypt) [10], while Saleh Al Muhsen and colleagues published on the epidemiology of PID in the Middle East [11]. Both regions are characterised by high rates of inbreeding (20-60 %) and they have a comparable distribution of PID causes, with a high incidence of SCID and founder mutations.…”