Primary Immunodeficiency Diseases in Children: 15 Year Experience in a Tertiary Care Medical Center in Qatar

Ehlayel, Mohammad; Bener, Abdülbari; Laban, Mohammad Abu

doi:10.1007/s10875-012-9812-y

Cited by 40 publications

(39 citation statements)

References 24 publications

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“…The proportion of patients with antibody deficiency in total is almost similar to previous reports from Iran but lower than the last report from ESID (26 vs. 57%) [4, 37]. Congenital defect of phagocyte number and/or function is the second most predominant PID in our study, similar to studies from France, Malaysia, Korea, USIDNET 8 , Iran and Iceland [4, 36–39], and is in contrast with studies from other registries that reported combined immunodeficiency with associated/syndromic feature as the second common one [33, 35, 39, 40]. Phagocyte defect involved 23.9% of our patients and 42% of PIDs in Oman [41].…”

Section: Discussionsupporting

confidence: 82%

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran

Sheikhbahaei

Sherkat

Roos

et al. 2016

Allergy Asthma Clin Immunol

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BackgroundPrimary immunodeficiency (PID) is a heterogeneous group of inheritable genetic disorders with increased susceptibility to infections, autoimmunity, uncontrolled inflammation and malignancy. Timely precise diagnosis of these patients is very essential since they may not be able to live with their congenital immunity defects; otherwise, they could survive with appropriate treatment. DNA biobanks of such patients could be used for molecular and genetic testing, facilitating the detection of underlying mutations in known genes as well as the discovery of novel genes and pathways.MethodsAccording to the last update of the International Union of Immunological Societies (IUIS) classification, patients are registered in our biobank during a period of 15 years. All patients’ data were collected via questionnaire and their blood samples were taken in order to extract and protect their DNA content.ResultsOur study comprised 197 patients diagnosed with PID. Antibody deficiency in 50 patients (25.4%), phagocytic defect in 47 patients (23.8%) and combined immunodeficiency with associated/syndromic feature in 19 patients (9.6%) were the most common PID diagnoses, respectively. The most common variant of PID in our study is common variable immunodeficiency, which accounted for 20 cases (10.1%), followed by chronic mucocutaneous candidiasis in 15 patients (7.9%) and congenital neutropenia in 13 patients (7%). Mean age at onset of disease was 4 years and mean age of diagnosis was 9.6 years. The average diagnostic delay was 5.5 years, with a range of 6 months to 46 years. Parental consanguinity and history of PID in family were observed in 70.2 and 48.9% of the patients, respectively. The majority of PID patients (93.3%) were from families with low socioeconomic status.ConclusionThis prospective study was designed to establish a PID Biobank in order to have a high quality DNA reservoir of these patients, shareable for international diagnostic and therapeutic collaborations. This article emphasizes the need to raise the awareness of society and general practitioners to achieve timely diagnosis of these patients and prevent current mismanagements.

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Section: Discussionsupporting

confidence: 82%

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran

Sheikhbahaei

Sherkat

Roos

et al. 2016

Allergy Asthma Clin Immunol

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“…The lower rate of consanguineous marriage in Turkey had contributed to the reduced incidence of such disorders in their population. Moreover registries from the MENA region (16–21, 23, 24, 26) showed a high prevalence of PIDs when compared to the rest of the world (48–53) (Figure 1B). The variable low or high PID reported prevalence might be a reflection of the accessibility and the availability for diagnostic facilities in this population among MENA countries.…”

Section: Discussionmentioning

confidence: 99%

“…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%

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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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“…However, only Iran and Kuwait have established national registries, which they have used to publish several reports (41)(42)(43)(44)(45). Recently, two single-center series were published providing epidemiological PID profiles for Qatar and Oman (46)(47).…”

Section: Third Step: Development Of Pid Centers and Registriesmentioning

confidence: 99%

Primary Immunodeficiency in the Developing Countries

Bousfiha

Jeddane

Condino‐Neto

2014

Primary Immunodeficiency Disorders

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Primary Immunodeficiency Diseases in Children: 15 Year Experience in a Tertiary Care Medical Center in Qatar

Cited by 40 publications

References 24 publications

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran

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

Primary Immunodeficiency in the Developing Countries

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