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2017 ; 8
(ä): 678
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gab.com Text
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English Wikipedia
Primary Immunodeficiency Diseases in Highly Consanguineous Populations from
Middle East and North Africa: Epidemiology, Diagnosis, and Care
#MMPMID28694805
Al-Mousa H
; Al-Saud B
Front Immunol
2017[]; 8
(ä): 678
PMID28694805
show ga
Middle East and North Africa region (MENA) populations are of different ethnic
origins. Consanguineous marriages are common practice with an overall incidence
ranging between 20 and 50%. Primary immunodeficiency diseases (PIDs) are a group
of heterogeneous genetic disorders caused by defects in the immune system that
predisposes patients to recurrent infections, autoimmune diseases, and
malignancies. PIDs are more common in areas with high rates of consanguineous
marriage since most have an autosomal recessive mode of inheritance. Studies of
PIDs in the region had contributed into the discovery and the understanding of
several novel immunodeficiency disorders. Few MENA countries have established
national registries that helped in estimating the prevalence and defining common
PID phenotypes. Available reports from those registries suggest a predominance of
combined immunodeficiency disorders in comparison to antibody deficiencies seen
in other populations. Access to a comprehensive clinical immunology management
services is limited in most MENA countries. Few countries had established
advanced clinical immunology service, capable to provide extensive genetic
testing and stem cell transplantation for various immunodeficiency disorders.
Newborn screening for PIDs is an essential need in this population considering
the high incidence of illness and can be implemented and incorporated into
existing newborn screening programs in some MENA countries. Increased awareness,
subspecialty training in clinical immunology, and establishing collaborating
research centers are necessary to improve patient care. In this review, we
highlight some of the available epidemiological data, challenges in establishing
diagnosis, and available therapy for PID patients in the region.