Vol 2, No 2 (2019)

Review Article

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    Primary immunodeficiency disorders (PID) are a group of hereditary disorders characterized by various complications. Many patients with PID are undiagnosed, underdiagnosed, or misdiagnosed due to lack of physicians’ awareness, which culminates in increased rates of morbidity and mortality.
    Method: Nine states of Iran were chosen for evaluating physicians’ awareness of PID. The population study consisted of pediatricians (specialties and subspecialties), pediatric residents, and general practitioners. A valid and reliable questionnaire was prepared for awareness scoring assessment. We provided physicians with continuing medical education (CME) and evaluated the effect on physicians’ awareness of PID.
    Results: Among 794 physicians, 466 general practitioners (GP), 90 pediatric residents, 124 pediatric specialists, and 20 pediatric subspecialists were included in this study. The mean age of participants was 40.96±10.63 years. The mean period of practicing medicine was 12±9.53 years. The mean total knowledge score of participants was 51.30 with a standard deviation of 18.76. Only 161 participants (20.4%) answered more than 2/3 of all questions correctly. The mean scores in the management of PIDs was 66.25±54.55, followed by laboratory findings as 49.57±25.07, clinical symptoms as 54.42 ± 17.85, and associated syndromes as 42.32 ± 28.57. Only 207 physicians completed the CME curricula. Significant improvements were observed in physician’s knowledge after the programs (P <0.0001).
    Conclusion: This survey demonstrated that there is a lack of both the knowledge and practice of pediatricians in the field of PID in Iran. Implementation of strategies to raise pediatricians’ awareness and assure the earliest diagnosis, appropriate treatment, and proper care management is critical.

Original Article

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    X-linked (Bruton’s) agammaglobulinemia (XLA) is a rare congenital disorder with defects in early B cell development caused by mutations in the gene encoding BTK (Bruton tyrosine kinase). The aim of this study was to investigate the expression and phosphorylation of BTK protein domain in these patients.
    Methods: A total of 19 patients with mutations in BTK gene were analyzed for the expression and phosphorylation of BTK protein through immunoblotting. The correlations between BTK expression and the results of immunoblotting as well as clinical and immunologic phenotypes were evaluated.
    Results: Six patients showed normal expression of protein and phosphorylation of BTK and two patients had normal phosphorylation while no expression was observed. There was a significant difference between the groups of patients with normal expression of protein and those without it (p=0.01).
    Conclusion: Since we identified 6 patients with normal expression and phosphorylation of BTK, and two patients with normal phosphorylation but no expression, thus more studies should be done in order to explore other aspects of the disease. Although there was not any significant correlation between the severity of clinical manifestations and BTK expression, further investigations are necessary to determine the compensatory mechanisms in XLA patients.
  • XML | PDF | downloads: 54 | views: 112 | pages: 72-83

    : Primary antibody deficiencies (PADs) are the most common inherited immunodeficiencies, which can present wide clinical presentation including susceptibility to bacterial infections and gastric adenocarcinoma. Since Helicopter pylori (H.pylori) infection is associated with immune dysregulation and an increased risk of gastric carcinogenesis, we evaluated the prevalence of HP infection in patients with different forms of PAD.
    Methods: Thirty-seven patients with common variable immunodeficiency (CVID), 23 patients with X-linked agammaglobulinemia (XLA), and eleven patients with hyper IgM syndrome (HIgM, age range 8-25; 47 males and 24 females) were screened for H.pylori infection by Urea breath test (UBT) and H.pylori stool antigen (HPSA). Subsequently, an upper gastrointestinal endoscopy was conducted only for patients who had UBT and HPSA positive results due to an established gastrointestinal indication.
    Results: Although almost all patients were under prophylactic antibiotic therapy, H.pylori infection was detected in 28% (n=20) of the patients; among different forms of PAD, 29% (n=11) of CVID patients, 30% (n=7) of XLA, and 18% (n=2) of HIgM patients were infected. Among patients with H.pylori infection, the rate of parasite infections was higher, while the prevalence of autoimmunity and autoinflammatory disorders increased in patients without H.pylori infection.
    Conclusions: Despite regular immunoglobulin replacement therapy and antibiotic prophylaxis, one-fourth of PAD patients had a persistent H.pylori infection though without severe gastrointestinal manifestations. Long-term follow-up of these selected patients is essential to evaluate its association with gastric cancers.

Case Report

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    Chronic Granulomatous Disease (CGD) can be associated with several neurological complications. Abscess in the brain in patients diagnosed with CGD has been reported in several publications. Different pathogens have been linked with brain abscess development including fungal or bacterial infections. Other neurologic complications may include white matter disease and formation of a granulomatous lesion in the central nervous system. In addition to these common reports, observation of leptomeningeal, along with focal brain infiltration by pigmented, lipid-laden macrophages, fungal brain infection, Aspergillus abscess resembling a brain tumor, spinal cord infection by Aspergillus, and fungal granuloma of the brain have also been described. Physicians should be aware of Streptococcus- and Candida-induced meningitis in a selected group of CGD patients as well. Herein, we report a case of the attenuated ill-defined lesion in the right cerebellar hemisphere in a CGD patient without involvement of the sinuses or lungs.