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Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center

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Abstract

Purpose

Inborn errors of immunity (IEI) are a heterogeneous group of diseases with variable clinical phenotypes. This study was conducted to describe the epidemiology, clinical presentations, treatment, and outcome of IEI in Jordanian children.

Methods

A retrospective data analysis was conducted for children under 15 years diagnosed with IEI from the pediatric Allergy, Immunology, and Rheumatology Division-based registry at Queen Rania Children’s Hospital, Amman, Jordan, between 2010 and 2022.

Results

A total of 467 patients, 263 (56.3%) males and 204 (43.7%) females, were diagnosed with IEI. The mean age at symptom onset was 18 months (1 week to 144 months), a positive family history of IEI 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 at 16.9%. The overall median diagnostic delay (range) was 6 (0-135) months; patients with a positive family history of IEI had a statistically significant shorter diagnostic delay. Pulmonary and gastrointestinal clinical features were the most common at 55.2% and 45.6%, respectively. The overall mortality was 33.2%; the highest rate was reported in severe combined immunodeficiency 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, call for national registry establishment, regional and international collaborative networks.

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Data Availability

No datasets were generated or analysed during the current study.

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Acknowledgements

We want to thank Dr. Raif Geha and his laboratory team for their support with functional and genetic testing for our patients. Also, we would like to thank the Jeffry Model Foundation (JMF) for JMF’s no-cost genetic sequencing program.

Funding

The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

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Authors and Affiliations

  1. Pediatric Allergy, Immunology, and Rheumatology Division, Queen Rania Children’s Hospital, Jordanian Royal Medical Service, Amman, Jordan

    Raed Alzyoud, Motasem Alsuweiti, Heba Maaitah, Boshra Aladaileh, Mohammed Noubani & Hamazh Nsour

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  1. Raed Alzyoud
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Contributions

H. M., B. A., M. N., and H. N. collected the data. M. S. entered and tabulated the data. R. Alz. performed the analysis and the first draft of the manuscript. All authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Raed Alzyoud.

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Alzyoud, R., Alsuweiti, M., Maaitah, H. et al. Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center. J Clin Immunol 44, 101 (2024). https://doi.org/10.1007/s10875-024-01709-6

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