New Presentation of Cd27 Deficiency; Coronary Ectasia and Covid-19 Publisher Pubmed



Golchehre Z¹ ; Sharafian S² ; Momtazmanesh N³ ; Chavoshzadeh Z² ; Karimi A⁴ ; Abolhassani H^{5, 6} ; Aghdam MK⁷ ; Vahidshahi K⁸ ; Hashemimoghaddam S² ; Kosari F⁹ ; Khafafpour Z³ ; Shamsian BS³ ; Keramatipour M¹ Show Affiliations
Source: Iranian Journal of Allergy# Asthma and Immunology Published:2023

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. Copyright © 2023 Golchehre et al. Published by Tehran University of Medical Sciences.