Abstract
Primary immunodeficiencies (PIDs) are rare disorders of the immune system encompassing inborn errors of immunity. Primary antibody deficiencies constitute the largest group of PID with common variable immunodeficiency (CVID) being the most common symptomatic form. Combined immunodeficiencies (CID) accompanied by antibody deficiency can mimic CVID and these patients need the verification of the final diagnosis. Respiratory involvement, especially interstitial lung disease (ILD), poses a relevant cause of morbidity and mortality among patients with PID and in some cases is the first manifestation of immunodeficiency. In this study we present a retrospective analysis of a group of children with primary immunodeficiency and ILD - the clinical, radiological, histological characteristics, treatment strategies and outcomes. Eleven children with PID-related ILD were described. The majority of them presented CVID, in three patients CID was recognized. All patients underwent detailed pulmonary diagnostics. In eight of them histological analysis of lung biopsy was performed. We noted that in two out of 11 patients acute onset of ILD with respiratory failure was the first manifestation of the disease and preceded PID diagnosis. The most common histopathological diagnosis was GLILD. Among the analyzed patients three did not require any immunosuppressive therapy. All eight treated children received corticosteroids as initial treatment, but in some of them second-line therapy was introduced. The relevant side effects in some patients were observed. The study demonstrated that the response to corticosteroids is usually prompt. However, the resolution of pulmonary changes may be incomplete and second-line treatment may be necessary.
Highlights
Primary immunodeficiencies (PIDs) are inherited disorders of the immune system encompassing inborn errors of immunity
Eleven children with interstitial lung disease were selected from the database of 796 children with PID followed-up between 2012 and 2019
Detailed immunological and genetic diagnostics enabled the diagnosis of common variable immunodeficiency (CVID) in nine patients in one of these patients, an next-generation sequencing (NGS) panel revealed an LRBA mutation
Summary
Primary immunodeficiencies (PIDs) are inherited disorders of the immune system encompassing inborn errors of immunity. The clinical spectrum of PIDs is broad, ranging from relatively mild disorders selectively affecting immune defense mechanisms to serious, life-threatening diseases characterized by profound lack of immune functions. Ten phenotypic categories of PIDs are recognized according to the underlying immune defects [3]. Primary antibody deficiencies (PADs) are the largest group of PIDs, accounting for ∼55% of PIDs in Europe (www.esid.com) and up to 78% in the USA [4]. PADs predominantly result from a primary defect in B cells, but can be caused by defects in T cells or other immune cell populations that contribute to B-cell or plasma cell development and function. Antibody deficiencies are characterized by a malfunctioning antibody response, which is reflected in low or undetectable levels of immunoglobulin(s)
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
