Inborn Errors of Immunity in Jordan: first report from a tertiary referral center

Abstract

Abstract Purpose Inborn errors of immunity (IEI) are a heterogeneous group of diseases with variable clinical phenotypes. Without the IEI national registry, this study has been conducted to describe the epidemiology, clinical presentations, treatment, and outcome of IEI in Jordanian children. Methods Retrospective data analysis for IEI children diagnosed and followed in Immunology, Allergy, and Rheumatology Division Queen Rania Children's Hospital, the only pediatric hospital in Jordan from 2010 till the end of 2022. Results A total of 467 patients, 263 (56.3%) males and 204 (43.7%) females, were diagnosed with IEI. The prevalence of IEI was 16.2/100,000 Jordanian children. The mean age at symptom onset was 18 months (1 week to 144 months), a positive family history was reported in 43.5%, and the consanguinity rate was 47.9%. The most common IEI category was immunodeficiencies affecting cellular and humoral immunity at 33.2%, followed by predominantly antibody deficiencies (PAD) at 16.9%. The overall IEI diagnostic delay mean (range) was 12.6 (0-135) months. Pulmonary and gastrointestinal clinical features were the most common at 55.2% and 45.6%, respectively; the majority were infection-related. The overall mortality was 33.2%; the highest rate was reported in severe combined immunodeficiency (SCID) at 56.2% Conclusions The high minimal estimated IEI prevalence at 16.2/100,000 Jordanian children compared to the regional and worldwide data, with the diversities in clinical presentation and distribution of IEI categories in our cohort point to unique features of IEI in Jordanian children, heeding national registry establishment, regional and international collaborative networks.