Abstract
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.
Highlights
Primary immunodeficiency (PID) is a heterogeneous group of inheritable genetic disorders with increased susceptibility to infections, autoimmunity, uncontrolled inflammation and malignancy
Other subcategories of PID were as follows: combined immunodeficiency with associated/syndromic feature 19 cases, innate immunity disorders and auto inflammatory diseases each 13 cases, combined immunodeficiency 12 cases, immune dysregulation 7 cases and complement deficiency 3 cases. 34 patients are presented with different manifestations of primary immunodeficiency diseases but are not yet categorized in a specific group
chronic granulomatous disease (CGD2) (n = 14), chronic mucocutaneous candidiasis (CMC3) (n = 13), and mendelian susceptibility to mycobacterial diseases (MSMD4) (n = 12) were common PIDs defined in our registered patients
Summary
Primary immunodeficiency (PID) is a heterogeneous group of inheritable genetic disorders with increased susceptibility to infections, autoimmunity, uncontrolled inflammation and malignancy. Primary immunodeficiency (PID) refers to a complex genetic group of disorders characterized by defects in the immune system, resulting in high susceptibility to various infections [1]. Publications on PID patients have improved our knowledge that at present about 250 genes are involved in distinct immunodeficiency disorders [2]. Significant advances in the identification of PIDs have been made, its prevalence is underestimated owing to lack of awareness of the public and general practitioners [3, 4]. Since most PIDs are inherited in an autosomal recessive pattern, consanguineous marriage leads to a higher rate of their prevalence [5, 6].
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