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.
Background The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders. Method The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and nextgeneration sequencing. Results Considering the newly diagnosed patients (n = 1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5%). The putative causative genetic defect was identified in 1014 patients (33.1%) and an autosomal recessive pattern was found in 79.3% of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort.
Allergic rhinitis (AR) is a common condition among schoolchildren. The prevalence rate of AR differs among countries and even among regions within the same country. The objective of this study was to determine the prevalence of nasal symptoms and signs of AR and nasal smear eosinophilia in 11- to 15-yr-old children in Shiraz. A total of 4584 children aged 11-15 yr of both sexes were surveyed from May 1995 to April 1996, and nasal symptoms and signs of AR (sneezing, rhinorrhea, nasal blockage, itching, color change, mucosal swelling, nasal wetness, and nasal crease), based on questionnaire and ear, nose and throat (ENT) examination were recorded. In addition, smears were taken from nasal secretions and stained. The results compared with nasal smears related to 340 healthy children. 1008 (22%) schoolchildren had nasal symptoms of AR (based on the questionnaire), 445 (9.7%) were identified as having nasal symptoms and signs of AR (based on the questionnaire and ENT specialist examination), and 226 (5.8%) had nasal symptoms and signs of AR associated with nasal eosinophilia (based on the questionnaire, ENT specialist examination and positive nasal smear for eosinophilia). Nasal eosinophilia was present in 274 (62%) children with nasal symptoms and signs of AR. This survey showed that prevalence of nasal symptoms and signs of AR was high in schoolchildren in Shiraz. Nasal smear eosinophilia had a diagnostic specificity of 96% and sensitivity of 62% and seems to be a potentially valuable test for AR.
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