Thirty years of primary immunodeficiencies in Turkey

Sanal, Özden; Tezcan, İlhan

doi:10.1111/j.1749-6632.2011.06242.x

Cited by 31 publications

(16 citation statements)

References 77 publications

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“…This is in keeping with results in Europe [29], Turkey [31], Iran [32] Japan [33] and a center in India [34]. Other centers in India report immune dysregulation and B and T cell disorders [30], and immune dysregulation and phagocytic disorders [35] as the commonest PID.…”

Section: Discussionsupporting

confidence: 84%

Spectrum of primary immunodeficiency disorders in Sri Lanka

Silva

Gunawardena

Rathnayake

et al. 2013

All Asth Clin Immun

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BackgroundWhile primary immunodeficiencies (PID has been recognized in the west for decades, recognition has been delayed in the third world. This study attempts to detail the spectrum of PID, the therapy provided, and constraints in the diagnosis and treatment in a middle income country such as Sri Lanka.MethodsNine hundred and forty two patients with recurrent infections and features suggestive of immune deficiency, referred from the entire country in a 4 year period, to the sole immunology unit in Sri Lanka were included. The following tests were performed. Full blood counts, serum Immunoglobulin and complement C3 and C4 levels, functional antibody levels, enumeration of lymphocyte subsets, in vitro and in vivo T cell functional assays,, nitroblue tetrazolium assay to diagnose chronic granulomatous disease, hair shaft assay to diagnose Griscelli syndrome. Sequencing of the common gamma chain to identify x linked severe combined immune deficiency, and X linked agammaglobulinemia was confirmed by assaying for Btk mutations by single sequence conformation polymorphism. HIV/AIDS was excluded in all patients.ResultsSeventy three patients were diagnosed with a primary immune deficiency. The majority (60.27%) had antibody deficiency. Common variable immune deficiency was the commonest (28.76%), followed by X linked agammaglobulinemia (XLA) (20.54%). Five patients had possible hyper IgM syndrome.Ten patients had severe combined immune deficiency (SCID), including 2 with x linked SCID, in addition to DiGeorge syndrome (2), ataxia telangiectasia (6), autosomal dominant hyper IgE syndrome (2), chronic granulomatous disease (4), leucocyte adhesion deficiency type 1 (2) and Griscelli syndrome (3).Patients with autoinflammatory, innate immune and complement defects could not be identified due to lack of facilities.ConclusionsAntibody deficiency is the commonest PID, as in the west.IgA deficiency is rare. Autoinflammatory diseases, innate immune and complement deficiencies could not be identified due to lack of diagnostic facilities. Lack of awareness of PID among adult physicians result in delay in treatment of adult patients. While treatment of antibody deficiencies provided in state hospitals has extended life expectancy, there is no treatment available for severe T cell defects.

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Section: Discussionsupporting

confidence: 84%

Spectrum of primary immunodeficiency disorders in Sri Lanka

Silva

Gunawardena

Rathnayake

et al. 2013

All Asth Clin Immun

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“…The first immunology center in Turkey was established in 1972 at Hacettepe University in Ankara. There are now more than 10 immunology centers in different cities around Turkey with facilities to diagnose common PIDs (29). Departments of Pediatric Immunology at Uludag University Medical Faculty and Ege University Medical Faculty are the major centers reporting PID patients to European Society for Immunodeficiencies database from Turkey (23).…”

Section: Diagnostic Facilitiesmentioning

confidence: 99%

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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“…Moreover, Turkey has a high rate of consanguineous marriages; some 20-25% of marriages in urban areas and more than 35% in rural areas are consanguineous. 22 This may also explain the high ratio among our patients with SAD.…”

Section: Volume 59 • Number 5 Infection Profiles Of Turkish Patients mentioning

confidence: 81%

Defective pneumococcal antibody response in patients with recurrent respiratory tract infections

Erman¹,

Demirtaş

Bildik

et al. 2017

Turk J Pediatr

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Streptococcus pneumoniae is a common pathogen responsible for pulmonary infections and the leading cause of mortality and morbidity in patients with particularly B cell immunodeficiencies. Antibody production is the principal protective immune response against S. pneumoniae and measurement of the production of antipolysaccharide antibodies is important in the evaluation of B cell deficiencies. We quantified serotype-specific immunoglobulin G antibodies against seven common pneumococcal serotypes before and three weeks after unconjugated vaccine in 416 patients with recurrent respiratory tract infections; fifty-five (13%) of whom showed impaired antibody response. We could evaluate 41 of these 55 patients for their particular clinical features. Specific antibody deficiency, was diagnosed in 10 of these patients, common variable immunodeficiency in 18, ataxia telangiectasia in 10 and other antibody deficiencies in 7 (transient hypogammaglobulinemia in 4, IgG subclass deficiency in 1, partial and selective IgA deficiency in 1) patients. Evaluation of the antibody response to polysaccharide antigens should be considered early on in patients with recurrent respiratory infections and required particularly for the diagnosis of specific antibody deficiency and the decision of the appropriate treatment approaches.

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Thirty years of primary immunodeficiencies in Turkey

Cited by 31 publications

References 77 publications

Spectrum of primary immunodeficiency disorders in Sri Lanka

Spectrum of primary immunodeficiency disorders in Sri Lanka

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

Defective pneumococcal antibody response in patients with recurrent respiratory tract infections

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