Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 2 2 2019 06 01 44 57 Mohammad Hossein Asgardoon Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran AND Iranian Student Society for Immunodeficiencies, Student’s Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran Mohamad Mehdi Rezwanifar Iranian Student Society for Immunodeficiencies, Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran Bahar Ataeinia Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran Yasser Bagheri Clinical Research Development Unit (CRDU), 5 azar Hospital, Golestan University of Medical Sciences, Gorgan, Iran AND Department Immunology, School Medicine, Iran University of Medical Sciences , Tehran, Iran AND Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran 2019 04 19 Background/objectives: 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. https://igj.tums.ac.ir/index.php/igj/article/view/13 https://igj.tums.ac.ir/index.php/igj/article/download/13/15

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 2 2 2019 06 01 58 71 Mahsa Sohani Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran Samaneh Delavari Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran Amir Hassan Zarnani Department of Immunology, School of Public HealthTehran University of Medical SciencesTehran, Iran Leila Parvaneh Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran Shima Rasouli Department of Medical Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Sepideh Shahkarami Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran AND Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Tehran, Iran Sepideh Babaie Department of Immunology, School of Public HealthTehran University of Medical SciencesTehranIran Fatemeh Kiaee Research Center for Immunodeficiencies, Children's Medical Center , Tehran University of Medical Science , Tehran , Iran AND Department of Medical Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2019 04 19 Background/objectives: 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. https://igj.tums.ac.ir/index.php/igj/article/view/14 https://igj.tums.ac.ir/index.php/igj/article/download/14/16

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 2 2 2019 06 01 72 83 Fatemeh Kiaee Research Center for Immunodeficiencies, Children's Medical Center , Tehran University of Medical Science , Tehran , Iran Naiimeh Tavakolinia Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran Leila Moradi Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran Samaneh Delavari Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran Kosar Abouhamzeh Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran Shiva Bayat Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran Pardis Anvari Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran Seyed Alireza Mahdaviani Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran Mohammad Nabavi Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Shahin Merat Digestive Disease Research Center, Digestive Disease Research Institute, Tehran University of Medical Sciences, Tehran, Iran Fariborz Zandieh Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran Nima Parvaneh Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science, Tehran, Iran Reza Malekzadeh Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran 2019 04 19 Background/objectives: 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. https://igj.tums.ac.ir/index.php/igj/article/view/15 https://igj.tums.ac.ir/index.php/igj/article/download/15/17

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 2 2 2019 06 01 84 89 Shabnam Pourhamdi Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Payam Mohammadinejad Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 2019 04 19 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. https://igj.tums.ac.ir/index.php/igj/article/view/16 https://igj.tums.ac.ir/index.php/igj/article/download/16/18