Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 2 1 2019 03 01 1 21 Hassan Abolhassani Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden Marzieh Tavakol Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran Zahra Chavoshzadeh Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 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 Tooba Momen Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran Reza Yazdani Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science, Tehran, Iran Gholamreza Azizi Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran Masoud Movahedi Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran Amir Ali Hamidieh Hematology, Oncology and Stem Cell Transplantation Research Centre, Tehran University of Medical Sciences, Tehran, Iran Nasrin Behniafard Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Mohammad Nabavi Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Saba Arshi Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Mohammad Hassan Bemanian Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Morteza Fallahpour Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Sima Shokri Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Rasol Molatefi Department of Pediatrics, Bo-Ali children's Hospital of Ardabil University of Medical Sciences, Ardabil, Iran Roya Sherkat Acquired Immunodeficiency Research Center, lsfahan University of Medical Sciences, Isfahan, lran Afshin Shirkani Allergy and Clinical Immunology Department, Bushehr University of Medical Science, School of Medicine, Bushehr, Iran Reza Amin Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Soheila Aleyasin Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Reza Faridhosseini Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran Farahzad Jabbari-Azad Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran Iraj Mohammadzadeh Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran Javad Ghaffari Department of Pediatrics, Mazandaran University of Medical Sciences, Sari, Iran Alireza Shafiei Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran Arash Kalantari Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran Mahboubeh Mansouri Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran Mehrnaz Mesdaghi Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran Delara Babaie Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Hamid Ahanchian Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran Maryam Khoshkhui Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran Habib Soheili Department of Pediatrics, School of Medicine, Arak University of Medical Sciences, Arak, Iran Mohammad Hossein Eslamian Department of Pediatrics, Hamadan University of Medical Sciences, Hamadan, Iran Taher Cheraghi Department of Pediatrics, 17th Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran Abbas Dabbaghzadeh Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran Mahmoud Tavassoli Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Rasoul Nasiri Kalmarzi Cellular & Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran Seyed Hamidreza Mortazavi Department of Pediatrics, Kermanshah University of Medical Sciences, Kermanshah, Iran Sara Kashef Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Hossein Esmaeilzadeh Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Javad Tafaroji Department of Pediatrics, Qom University of Medical Sciences, Qom, Iran Abbas Khalili Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Fariborz Zandieh Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran Mahnaz Sadeghi-Shabestari Department of Immunology and Allergy, Tabriz University of Medical Sciences, Tabriz, Iran Sepideh Darougar Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD) Fatemeh Behmanesh Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Hedayat Akbari Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Mohammadreza Zandkarimi Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran Farhad Abolnezhadian Department of Immunology and Allergy, Ahvaz University of Medical Sciences, Ahvaz, Iran Abbas Fayezi Department of Immunology and Allergy, Ahvaz University of Medical Sciences, Ahvaz, Iran Mojgan Moghtaderi Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Akefeh Ahmadiafshar Mousavi Hospital, Zanjan University of Meical Sciences, Zanjan, Iran Behzad Shakerian Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Vahid Sajedi Department of Immunology and Allergy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran Behrang Taghvaei Department of Immunology and Allergy, Semnan University of Medical Sciences, Semnan, Iran Mojgan Safari Department of Pediatrics, Hamadan University of Medical Sciences, Hamadan, Iran Marzieh Heidarzadeh Department of Immunology and Allergy, Kashan University of Medical Sciences, Kashan, Iran Babak Ghalehbaghi Department of Pediatrics, 17th Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran Seyed Mohammad Fathi Department of Immunology and Allergy, Qazvin University of Medical Sciences, Qazvin, Iran Behzad Darabi Department of Immunology and Allergy, Ilam University of Medical Sciences, Ilam, Iran Saeed Bazregari Allergy and Clinical Immunology Department, Bushehr University of Medical Science, School of Medicine, Bushehr, Iran Nasrin Bazargan Department of Immunology and Allergy, Kerman University of Medical Sciences, Kerman, Iran Alireza Khayatzadeh Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science, Tehran, Iran Naser Javahertrash Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Bahram Bashardoust Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran Mohammadali Zamani Department of Immunology and Allergy, Shahrekord University of Medical Sciences, Shahrekord , Iran Azam Mohsenzadeh Department of Pediatrics, Lorestan University of Medical Sciences, Khorramabad, Iran Sarehsadat Ebrahimi Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran Samin Sharafian Allergy and Clinical Immunology Department, Bushehr University of Medical Science, School of Medicine, Bushehr, Iran Ahmad Vosughimotlagh Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran Mitra Tafakoridelbari Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran Maziar Rahimi Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran Parisa Ashournia Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran Anahita Razaghian Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran Fatemeh Aghaeimeybodi Department of Internal Medicine Shahid Sadoughi University of Medical Sciences, Yazd, Iran Setareh Mamishi Pediatric Infectious Diseases Research Center, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran Nima Parvaneh Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran Nima Rezaei Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science, Tehran, Iran Asghar Aghamohammadi Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science, Tehran, Iran 2019 01 19 Primary immunodeficiency (PID) is a group of more than 400 distinct genetic disorders affecting both children and adults. As signs and symptoms of PID are usually heterogeneous and unspecific, diagnosis and follow-up of these patients can be challenging based on the available human resources and laboratory facilities. In order to reach a distinct national protocol and due to little evidence to guide appropriate or universal guidelines to improve the current status of management of the disease, the Iranian PID network designed a consensus appropriate for regional resources. This review summarizes this PID guideline based on the importance of different clinical complications and the level of medical authority visiting those at the first line. Moreover, for each complication, appropriate interventions for improving approach are mentioned. https://igj.tums.ac.ir/index.php/igj/article/view/9 https://igj.tums.ac.ir/index.php/igj/article/download/9/11

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 2 1 2019 03 01 22 27 Zahra Daneshmandi Department of Allergy and Clinical Immunology, Mofid Childrens̓ Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Sepideh Darougar Department of Allergy and Clinical Immunology, Islamic Azad University of Medical Sciences, Tehran, Iran. Susan Akbaroghli Mofid Childrens̓ Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Elham Torabi Department of Allergy and Clinical Immunology, Mofid Childrens̓ Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Dorrotya Csuka The 3rdDepartment of Internal Medicine, Semmelweis University, Budapest, Hungary. Henriette Farkas The 3rdDepartment of Internal Medicine, Semmelweis University, Budapest, Hungary. Lilian Varga The 3rdDepartment of Internal Medicine, Semmelweis University, Budapest, Hungary. Mehrnaz Mesdaghi Department of Allergy and Clinical Immunology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Zahra Chavoshzadeh Department of Allergy and Clinical Immunology, Mofid Childrens̓ Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 2019 01 07 Background/objectives: Hereditary Angioedema (HAE) is a rare, autosomal dominant genetic disease, characterized clinically by episodic non-pruritic swelling of face, limbs and tissue just beneath the skin. Laryngeal edema is the main cause of death in these patients. Sometimes the disease may affect the family members of the index case. Therefore, early recognition of disease in family members of the patients may prevent potential consequence of mortality. Method: The Ten patients were entered in the study. Laboratory finding including complement component were evaluated by nephelometry and CH50 assay. Result: A family with a large number of patients with this disease. A 33-year-old man was presented with complaints of periodic abdominal pain, episodic swelling of hands and feet, and respiratory distress. Similar symptoms were reported by his siblings and his mother. Laboratory studies illustrated low C4, CH50 and C1q inhibitor levels consistent with HAE. Pedigree analysis indicated a large number of affected people in this family. MLPA was performed to remove or reproduce the SERP-ING1 gene with probemix P243-A3 of MRC-Holland revealing a heterozygous substitution in exon 3 gene (c.467C>A). Due to the wide variety of disease expression, clinical characteristics and pedigree analysis were appropriate to recognize the HAE. Conclusion: Regarding that hereditary angioderma is a life-threatening, laboratory finding, family history and genetic background evaluation can be considered as an effective ways to improve patient’s condition. https://igj.tums.ac.ir/index.php/igj/article/view/10 https://igj.tums.ac.ir/index.php/igj/article/download/10/12

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 2 1 2019 03 01 28 36 Mahnaz Jamee Student Research Committee, Alborz University of Medical Sciences, Alborz, Iran AND Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran Laleh Sharifi Uro-Oncology Research Center, Tehran University of Medical Sciences, Tehran, Iran Saleh Ghiasy Cancer Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2019 01 05 Background/Objectives: Ataxia-telangiectasia (AT) is a rare inherited disorder caused by mutations in the ATM (Ataxia Telangiectasia Mutated) gene. Antibody response to diphtheria and tetanus toxoid vaccines may reveal indirect information about both cellular and humoral arms of the immune system in these patients. This study, therefore, set out to assess the specific antibody responses against tetanus and diphtheria vaccination among AT patients.   Methods: Thirty-eight AT patients were entered the study and an appropriate questionnaire was completed for all of them. Laboratory findings including alpha fetoprotein, lymphocyte subsets, serum immunoglobulin levels of IgG, IgG subsets, IgA, IgM, IgE and antibody response against diphtheria and tetanus toxoids were measured.   Results: Thirty-eight A-T patients were enrolled in this study. Based on the anti-tetanus and anti-diphtheria antibody production, 24 and 14 patients were categorized in responder (R) and non-responder (NR) groups, respectively. Respiratory tract infection was the most common infectious complication reported more frequently in the R comparing to NR group. Within the non-infectious manifestations, after cerebellar ataxia, ocular telangiectasia (52.6%) and FTT (26.3%) were the most frequent. 34.8% of individuals in R group but none of the NR patients had normal serum immunoglobulin profile (P=0.015). Contrarily, HIGM phenotype was found more frequent in NR group comparing to R group (50% vs. 17.4%, p= 0.063).   Conclusions: In accordance with the previous studies, we observed sufficient antibody response to diphtheria and tetanus vaccines in most of the AT patients.   https://igj.tums.ac.ir/index.php/igj/article/view/11 https://igj.tums.ac.ir/index.php/igj/article/download/11/13

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 2 1 2019 03 01 37 43 Nasser Ebrahimi Daryani Department of Gastroenterology and Hepatology, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran. Babak Torabi-Sagvand Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Elnaz Panah Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 2019 01 04 Enteropathy is one of the rare manifestations of common variable immunodeficiency (CVID) as a predominant antibody deficiency. Proper diagnosis of this phenotype in CVID cases is difficult and may result in inaccurate assessment or incorrect management. Further, this misdiagnosis is more probable when noninfectious diarrhea is the only manifestation of CVID. We present herein a case with such an abstruse condition who was misdiagnosed as a celiac disease leading to delayed diagnosis of her primary immunodeficiency disease. We also offer a review on enteropathy manifestation in CVID patients. https://igj.tums.ac.ir/index.php/igj/article/view/12 https://igj.tums.ac.ir/index.php/igj/article/download/12/14