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Iranian Journal of Allergy, Asthma and Immunology، جلد ۲۲، شماره ۱، صفحات ۱۱۰-۱۱۸
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عنوان انگلیسی New Presentation of CD27 Deficiency; Coronary Ectasia and COVID-19
چکیده انگلیسی مقاله CD27 is a costimulatory receptor involved in the maturation of the innate and adaptive immunity. CD27, through interaction with CD70, plays a role in the control of Epstein-Barr virus (EBV) infection. CD27 deficiency leads to an immune dysregulation disease characterized by EBV susceptibility. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) might put patients with primary immunodeficiency at risk for adverse outcomes. Chromogenic in situ hybridization (CISH) study was performed to detect EBV in the lymphoma tissue. Genetic analysis of the patient was done with Whole Exome Sequencing and detected variant was confirmed with PCR-Sanger sequencing. Here we report a 20-month-old boy with CD27 deficiency who developed lymphoma and coronary artery ectasia and had been infected with SARS-CoV-2. Clinical and laboratory findings were incompatible with atypical Kawasaki syndrome or multisystem inflammatory syndrome in children (MIS-C). As CD27 deficiency is a rare immune defect, publishing clinical data about the identified patient(s) can shed light on our knowledge about the related phenotype and the spectrum of clinical manifestations associated with CD27 deficiency. Thus, our findings expanded the spectrum of manifestations beyond EBV infection, highlighting this unusual cardiac sequela that could be related to EBV infection, lymphoma, or an underlying disease. 
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نویسندگان مقاله | Zahra Golchehre
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Samin Sharafian
Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Nader Momtazmanesh
Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Zahra Chavoshzadeh
Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Abdollah Karimi
Pediatric Infections Research Center (PIRC), Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Hassan Abolhassani
Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institute, Huddinge, Sweden


| Maryam Kazemi Aghdam
Pediatric Pathology Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Koroush Vahidshahi
Pediatric Cardiology, Shahid Modarres Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Seyedehatefeh Hashemimoghaddam
Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Farid Kosari
Department of Pathology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Zahra Khafafpour
Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Bibi Shahin Shamsian
Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Mohammad Keramatipour
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
نشانی اینترنتی https://ijaai.tums.ac.ir/index.php/ijaai/article/view/3580
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