Prevalence of inherited errors of immunity in a cohort of Egyptian children with childhood interstitial lung disease

Abstract Background Childhood interstitial lung disease (ChILD) represents a heterogeneous group of diseases, typically with a restrictive lung disease pattern. Patients with inherited errors of immunity (IEI) display many symptoms. Beyond recurrent infections, non-infectious manifestations, such as interstitial lung disease (ILD), may occur. Aim of the study To estimate the prevalence of IEI among a group of Egyptian children with ChILD. Methods This study enrolled 30 patients, both males and females, aged 1 to 18 years, who were clinically and radiologically diagnosed with ChILD. All participants underwent comprehensive evaluations, including a full medical history, clinical examination, laboratory investigations (complete blood count [CBC], absolute lymphocyte count [ALC], immunoglobulins [Igs], and clusters of differentiation [CDs], among others as indicated), imaging studies (high-resolution computed tomography [HR-CT] of the chest), and pulmonary function tests, when feasible. Results The prevalence of IEI among ChILD cases was 20% in the studied population. Chronic granulomatous disease (CGD) was the most frequently diagnosed IEI in this cohort. Significant differences between the immunocompetent and immunodeficient groups were observed in consanguinity ( P = 0.017) and the occurrence of unusual infections ( P < 0.001), with both factors strongly correlating with IEI. Conclusion The prevalence of IEI among ChILD cases in this cohort was 20%. IEI should be investigated in ChILD, particularly in cases with a suggestive history and the absence of other pulmonary or systemic causes.