The Multidisciplinary Approach to Diagnosing Inborn Errors of Immunity: A Comprehensive Review of Discipline-Based Manifestations Publisher Pubmed



N Yazdanpanah NILOUFAR ; N Rezaei NIMA
Source: Expert Review of Clinical Immunology Published:2024

Abstract

Introduction: Congenital immunodeficiency is named primary immunodeficiency (PID), and more recently inborn errors of immunity (IEI). There are more than 485 conditions classified as IEI, with a wide spectrum of clinical and laboratory manifestations. Areas covered: Regardless of the developing knowledge of IEI, many physicians do not think of IEI when approaching the patient’s complaint, which leads to delayed diagnosis, misdiagnosis, serious infectious and noninfectious complications, permanent end-organ damage, and even death. Due to the various manifestations of IEI and the wide spectrum of associated conditions, patients refer to specialists in different disciplines of medicine and undergo–mainly symptomatic–treatments, and because IEI are not included in physicians’ differential diagnosis, the main disease remains undiagnosed. Expert opinion: A multidisciplinary approach may be a proper solution. Manifestations and the importance of a multidisciplinary approach in the diagnosis of main groups of IEI are discussed in this article. © 2024 Elsevier B.V., All rights reserved.