Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013)

Al‐Saud, Bandar; Al‐Mousa, Hamoud; Gazlan, Sulaiman Al; Al-Ghonaium, Abdulaziz; Arnaout, Rand; Al-Seraihy, Amal; Elshorbagi, Sahar; Elsayed, Nazeema; Afzal, Jawad; Al-Dhekri, Hasan; Al‐Muhsen, Saleh

doi:10.1007/s10875-015-0197-6

Cited by 53 publications

(54 citation statements)

References 37 publications

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“…Indeed, only 15.47% of the patients had predominantly antibody deficiencies. Similar observations have been reported in others series from MENA region (10, 11). This could be due to the less severe clinical phenotype and to the lack of adult physicians’ awareness particularly with regard to common variable immunodeficiency.…”

Section: Pids Distribution Parental Consanguinity and Familial Historysupporting

confidence: 92%

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population

et al. 2017

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During the last decades, the study of primary immunodeficiencies (PIDs) has contributed tremendously to unravel novel pathways involved in a variety of immune responses. Many of these PIDs have an autosomal recessive (AR) mode of inheritance. Thus, the investigation of the molecular basis of PIDs is particularly relevant in consanguineous populations from Middle East and North Africa (MENA). Although significant efforts have been made in recent years to develop genetic testing across the MENA region, few comprehensive studies reporting molecular basis of PIDs in these settings are available. Herein, we review genetic characteristics of PIDs identified in 168 patients from an inbred Tunisian population. A spectrum of 25 genes involved was analyzed. We show that AR forms compared to X-linked or autosomal dominant forms are clearly the most frequent. Furthermore, the study of informative consanguineous families did allow the identification of a novel hyper-IgE syndrome linked to phosphoglucomutase 3 mutations. We did also report a novel form of autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression as well as a novel AR transcription factor 3 deficiency. Finally, we identified several founder effects for specific AR mutations. This did facilitate the implementation of preventive approaches through genetic counseling in affected consanguineous families. All together, these findings highlight the specific nature of highly consanguineous populations and confirm the importance of unraveling the molecular basis of genetic diseases in this context. Besides providing a better fundamental knowledge of novel pathways, their study is improving diagnosis strategies and appropriate care.

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Section: Pids Distribution Parental Consanguinity and Familial Historysupporting

confidence: 92%

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population

et al. 2017

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“…The T-B-NK+ SCID represents the most common SCID phenotype in 90, 87, and 50% of Saudi Arabia, Kuwait, and Egypt SCID patients, respectively. Family history suggestive of PID is common among patients in MENA region as captured in several registries at a rate of 30, 44, 48, 61, and 80% in Tunisia, Oman, Iran, Saudi Arabia, and Egypt, respectively (16–24). Moreover, a significant number of these AR PIDs were first described in patients living in the MENA region (25).…”

Section: Consanguinitymentioning

confidence: 99%

“…These data result from a national registry or survey as those from Morocco (21), Tunisia (20), Israel (26), Kuwait (17), and Iran (22), or from a major referral centers in; Egypt (19), Turkey (23), Saudi Arabia (16), Qatar (24), and Oman (18). A total number of 4,918 patients were included.…”

Section: Epidemiological Data and Registriesmentioning

confidence: 99%

“…In Saudi Arabia, an advanced clinical diagnostic immunology service at King Faisal Specialist Hospital and Research Centre (KFSHRC) had been established in the last 30 years that allowed access to diagnose most of the known PIDs. Extensive genetic testing that includes Sanger sequencing, Targeted next-generation sequencing PID gene panel, and whole exome sequencing is offered to affected patients (16, 27, 28). Sultan Qaboos University Hospital, the Royal Hospital, and Hamad General Hospital are the main PID centers in Oman and Qatar, respectively.…”

Section: Diagnostic Facilitiesmentioning

confidence: 99%

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Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care

Al‐Mousa

Al‐Saud

2017

Front. Immunol.

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Middle East and North Africa region (MENA)1 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.

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“…Tertiary hospitals offering PID testing services in developed and developing countries have reported a wide spectrum of PIDs within their respective communities [9–12]. Access to specialised clinical and laboratory resources differ among the countries, depending on the expertise and financial resources of each healthcare system [13].…”

Section: Introductionmentioning

confidence: 99%

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand

Woon

Ameratunga

2016

Allergy Asthma Clin Immunol

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Background and purposeNew Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs).MethodsSince 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014.ResultsWe undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobulinemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity.ConclusionsThorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next generation sequencing will play an increasing role in disorders with locus heterogeneity.

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Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013)

Abstract: The study revealed that combined immunodeficiencies are not uncommon and are the most frequent occurring diagnosis in our patient population. This study is a prerequisite to establish a national registry of primary immunodeficiency in Saudi Arabia.

Cited by 53 publications

References 37 publications

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population

Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand

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