New Presentation of CD27 Deficiency; Coronary Ectasia and COVID-19

Zahra Golchehre; Samin Sharafian; Nader Momtazmanesh; Zahra Chavoshzadeh; Abdollah Karimi; Hassan Abolhassani; Maryam Kazemi Aghdam; Koroush Vahidshahi; Seyedehatefeh Hashemimoghaddam; Farid Kosari; Zahra Khafafpour; Bibi Shahin Shamsian; Mohammad Keramatipour

doi:10.18502/ijaai.v22i1.12013

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
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

DOI: https://doi.org/10.18502/ijaai.v22i1.12013

Keywords: CD27 deficiency; COVID-19; Coronary ectasia; EBV-associated lymphoma; Multisystem inflammatory syndrome in children

Abstract

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.