Rheumatologic manifestations in children with underlying inborn errors of immunity.

Abstract

Background and objective: In recent years, many studies have been conducted on the possible link between rheumatologic diseases and inborn errors of immunity. Rheumatologic diseases may occur as manifestations of an underlying immunodeficiency disorder, and may appear before the more-common infectious manifestations more typically seen in immunodeficiency disorders. In this study, we have attempted to study such symptoms and uncover their relationship with inborn errors of immunity.

Methodology: In this retrospective descriptive-analytical study, 381 cases of IEIs in children that were referred to Mofid Children's Hospital clinic between 2015 and 2019 were evaluated for eligibility to be enrolled in the study. Of these patients, 20 that had confirmed rheumatologic diagnoses were entered into the study. Patients' demographic and medical data, including age at disease onset, age at diagnosis and type of diagnosed rheumatologic and immunodeficiency disorders, parental consanguinity rate, and relevant laboratory findings were retrieved for study and analyzed.

Results: Among 20 eligible patients, half of which were female and half were male, the average age at disease onset, average age at diagnosis of the underlying immunodeficiency disease and average age at diagnosis of the rheumatologic disease were 2.98 ± 1.56, 5.26 ± 3.45 and 3.58 ± 2.97, respectively. JIA made up 10 of the observed rheumatic diseases ("the JIA group"); the remaining 10 patients included SLE (3), FMF (2), juvenile dermatomyositis (2), MCTD (1), GPA (1) and reactive arthritis (1) ("the non-JIA group"). As for the underlying immunodeficiency disorders, CID was seen in 8 patients, followed by CVID (5), XLA (4), SIgAD (2) and CGD (1). The average age at onset of the disease and the average age at diagnosis of the rheumatologic disease were significantly lower in the JIA group than in the non-JIA group (p < 0.05).

Conclusions: A plethora of rheumatologic manifestations may be observed in patients with IEIs; such manifestations should be actively sought out and treated in IEI patients.

Clinical trial number: Not applicable.