Clinical and laboratory spectrum of inborn errors of immunity in Egypt: Five years of experience at a tertiary care university hospital

Abstract

The recognition and diagnosis of primary immunodeficiency disorders (PIDs) is challenging in developing countries. This study aimed to describe the features of PID patients in a tertiary care setting in Egypt and analyse the distribution, clinical features and outcome of PID among paediatric patients. Methods: This cross-sectional retrospective study was conducted between January 2016 and January 2021, to evaluate all paediatric patients aged below 18 years with PID that were diagnosed according to the International Union of Immunological Societies 2017 classification. We retrospectively studied the clinical features, diagnostic spectrum, laboratory investigations and relevant immunological workup, and treatment options. Results: A total of 61 PID patients were enrolled in the current study. The median age at diagnosis was 22 months. The overall consanguinity rate was 49.2%, and the family history of PID was 19.7%. Among all PIDs, the combined immunodeficiency with syndromic features predominates with 17 cases, accounting for 27.9% of all cases of PIDs. The predominant antibody deficiency was the second common PID that was diagnosed in 14 patients (23%). Recurrent pneumonia was the most common initial presentation, occurring in 77% of patients, followed by failure to thrive (63.9%), and recurrent otitis media (55.7%). The total deaths were 18 patients (29.5%). Conclusion: Paediatric patients with PIDs are not uncommon in Egypt. There is a need to improve PID diagnosis and treatment, for better estimation of PID and to decrease morbidity and mortality.

Clinicoepidemiologic Study of Primary Immunodeficiency (PID) Diseases in Children Attending Mansoura University Children's Hospital

“…Consanguinity showed high rates between our cases (58.2%) and this was near to an Egyptian study on PID patients 2022 (20) the rate was 52.8% .Other studies on PID patients showed also this high rate for example, a study in IRAN on PID (21) revealed consanguineous marriage in (60.1%) another study in Oman documented consanguinity in 76 % of patients (10) the same in sauidi Arabia (Al-In our study consanguinity rate was higher in rural areas than urban areas (76%) versus (23%) respectively and this is similar to most studies on Egyptian population either in the past (22) and recent studies (23) and this explain the higher rate of PID in rural areas than urban areas 70.9% vs 29.1%. the same in sauidi Arabia (13) 75% and Tunisia (9) (46%).…”

“…By comparison with other studies, in two Egyptian studies on PID patients (32,20) the mortality rate was 23.4% and 24.5%, respectively. Nonetheless, low death rates were observed in France (26) was (3.5%), Mexico (18) (6.82%), Saudi Arabia (13) (10.3%) and the United Kingdom (24) (13%).…”

Flow cytometry optimizing the diagnostic approach in inborn errors of immunity: experience from Egypt

“…Our diagnosis spectrum was also different than other studies published from Egypt. Almalky and his colleagues reported that CID with syndromic features followed by antibody defects were the comments categories diagnosed among their cohort [ 31 ]. Another study from Egypt reported that antibody defects and combined immunodeficiencies were the highest categories diagnosed [ 32 ].…”