Clinical and Genetic Characteristics of Children with Inborn Errors of Immunity from Egypt: A single Centre Study

Abstract

Abstract Purpose Inborn errors of immunity (IEI) comprise a heterogeneous group of monogenic disorders with wide spectrum of clinical manifestations. The aim of this study is to describe epidemiologic, clinical, and genetic features of patients with inborn errors of immunity in Mansoura University Children’s Hospital, a tertiary care center in Egypt. Methods We included patients seen during the period between 2014–2022. Data collected included sociodemographic, clinical features, laboratory investigations, management, and outcome. Results We enrolled 184 patients. The male/female ratio was 1.8:1. The age of onset of symptoms ranged between 2 and 24 months. The age at diagnosis ranged between 12 and 33.5 months with a diagnostic delay range of 0 to 213 months. One hundred and fifteen patients (62.5%) were born to consanguineous parents and family history was positive in 59 patients (32.1%). The most common category was immunodeficiencies affecting cellular and humoral immunity with Seventy-seven patients (41.8%). A causative mutation was identified in 106 patients (57.6% of all cases) with a diagnostic yield of 82.8%. The overall case fatality rate was 48 patients (26.1%). Conclusion Despite a single centre study, this data set may act as a nidus for setting up a national registry of IEIs disorders in Egypt. This study indicates that PIDs are not uncommon in Egypt and that immunodeficiencies affecting cellular and humoral immunity is the most common category. Introduction of wide-scale genetic tests allow early diagnosis and treatment that improve the quality of life.