Frequency and Clinical Manifestations of Patients with Primary Immunodeficiency Disorders in Iran: Update from the Iranian Primary Immunodeficiency Registry

Department of Allergy and Clinical Immunology of Children Medical Center, Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Journal of Clinical Immunology (Impact Factor: 3.18). 11/2006; 26(6):519-32. DOI: 10.1007/s10875-006-9047-x
Source: PubMed


Primary immunodeficiency disorders (PID) are a heterogeneous group of diseases, characterized by an increased susceptibility to infections. A total of 930 patients (573 males and 357 females) are registered in Iranian PID Registry (IPIDR) during three decades. Predominantly antibody deficiencies were the most common (38.4%), followed by congenital defects of phagocyte number and/or function (28.3%), other well-defined immunodeficiency syndromes (17.7%), combined T- and B-cell immunodeficiencies (11.0%), complement deficiencies (2.4%), and diseases of immune dysregulation (2.3%). Common variable immunodeficiency was the most frequent disorder (20.8%), followed by chronic granulomatous disease, ataxia-telangiectasia, btk deficiency, selective IgA deficiency, and T-B-severe combined immunodeficiency. The frequency of other PID disorders was less than 50 in number (<5%). There is an increasing trend in recognition of more PID in the recent years. Construction of such registry is not only important for its epidemiological aspect but also for its role in increasing the physician's knowledge about such disorders.


Available from: MOHAMMAD Nabavi, Jul 22, 2014
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    • "The majority (60.27%) had an antibody deficiency. 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. However, these centers deal with pediatric patients. "
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    ABSTRACT: While 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. Nine 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. Seventy 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. Antibody 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.
    Allergy Asthma and Clinical Immunology 12/2013; 9(1):50. DOI:10.1186/1710-1492-9-50 · 2.03 Impact Factor
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    • "Common variable immunodeficiency (CVID) is the most symptomatic primary immunodeficiency characterized by defective immunoglobulin and specific antibody production by B lymphocytes [1] [2] [3] [4] [5] [6] [7]. As a result of this failure, recurrent infections particularly with encapsulated bacteria in respiratory tract are often seen in CVID patients [1] [8] [9]. The antibody response is affected at both early and late stages of B cell maturation including up-regulation of CD70 and CD86 in naïve B cells, somatic hypermutation and antibody affinity maturation [1] [10]. "
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    ABSTRACT: Common variable immunodeficiency (CVID) is one of the predominant antibody disorders where abnormalities in regulatory T cells (Tregs) may result in autoimmunity and chronic inflammation. To evaluate Tegs frequency and function, 13 CVID patients and 10 age- and sex-matched healthy volunteer were enrolled. The percentages of Tregs were calculated using flow cytomety method. For assessment of Treg function, Tregs were isolated and their suppressive functions were determined using Tregs suppression assay. The levels of immunoregulatory cytokines IL-10 and TGF-β produced by Tregs were also measured. Our results revealed that Tregs frequency (P<0.001) and their suppressive functions (P<0.001) were impaired in CVID patients. The level of TGF-β did not differ between CVID patients and controls (p=0.09); while the amount of IL-10 was remarkably decreased in CVID patients (P=0.007). Our findings suggest that disturbed Tregs frequency and their functional characteristics might account for aberrant immune responses observed in CVID patients.
    Cellular Immunology 03/2013; 281(2):129-133. DOI:10.1016/j.cellimm.2013.03.003 · 1.92 Impact Factor
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    • "Nevertheless, this short coming was usually not the reason for the delayed diagnosis. It has been shown that hindrance in PID diagnosis hinges mainly on proper consideration of the clinical and laboratory findings [20]. "
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    ABSTRACT: Primary immunodeficiency (PID) is a cluster of serious disorders that requires special alertness on the part of the medical staff for prompt diagnosis and management of the patient. This study explored PID knowledge and experience among pediatricians of wide educational backgrounds, practicing in the United Arab Emirates (UAE). A self-administered questionnaire was used to determine the competency of pediatricians in their knowledge of PID disorders. This study questionnaire included questions on PID signs and symptoms, syndromes associated with immunodeficiency, screening tests, interpreting laboratory tests and case management. The participants were 263 pediatricians of diverse education working in the 27 governmental hospitals in all regions of UAE. The overall performance of the pediatricians did not differ based on their age, gender, origin of certification, rank, or years of experience. Of the 50 questions, 20% of pediatricians answered correctly <60% of the questions, 76% answered correctly 60 to 79% of the questions, and 4% answered correctly ≥80% of the questions. Seventeen of the 19 PID signs and symptoms were identified by 55 to 97%. Four of 5 syndromes associated with immunodeficiency were identified by 50 to 90%. Appropriate screening tests were chosen by 64 to 96%. Attention to the laboratory reference range values as function of patient age was notably limited. There was a noteworthy deficiency in PID work-up. Therefore, implementing effective educational strategies is needed to improve the competency of pediatricians to diagnose and manage PID disorders.
    BMC Research Notes 07/2012; 5(1):393. DOI:10.1186/1756-0500-5-393
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