Otitis Media and Inborn Errors of Immunity
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OTITIS (D SKONER, SECTION EDITOR)
Otitis Media and Inborn Errors of Immunity Maine L. D. Bardou 1 & Daniele Pontarolli 1 & Anete S. Grumach 1
# Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose of Review The aim of this review is as follows: (1) to present the role of otitis as a warning sign for inborn errors of immunity (IEI), (2) to establish which patients presenting otitis should be investigated for IEI, (3) to review data about main IEI associated with otitis-prone patients. Recent Findings Otitis media is a very common infection in general population. The concept of otitis-prone children established a certain frequency of the infections in order to look for conditions leading to them. The confirmation of middle ear impairment by specialists has demonstrated better confiability. The hallmarks for immunologic evaluation are the presence of complications as mastoiditis and membrane perforation, failure to thrive, and additional respiratory symptoms. Humoral immunodeficiencies have been more frequently described in association with otitis-prone patients, for example, hypogammaglobulinemia, MBL deficiency, and IEI associated with major syndromes. Summary Most of the patients with confirmed IEI present otitis as one of the recurrent infections. It is suggested the investigation of immune defects in patients with otitis, and the following warning signs are suggested: Otitis evolving with mastoiditis, abscesses, or systemic infections; no response to appropriate antibiotic therapy; otitis media associated with other infections; recurrent otitis leading to failure to thrive and general developmental delay; and family history of primary immunodeficiency and/ or consanguinity. Keywords Otitis . Inborn errors of immunity . Primary immunodeficiency . Otitis media . Immunity . Complication
Introduction Inborn errors of immunity (IEI), previously denominated as primary immunodeficiencies (PID), represent a heterogeneous group of immunologic disorders with an estimated prevalence of 1 in 10,000 to 1 in 12,000 in the general population [1]. Based on the progress in the molecular studies, the collective prevalence of IEI can be estimated to, at least, 1/1000 [2]. The group of IEI comprises 404 phenotypes with 430 known genetic defects causing these conditions. The spectrum of clinical presentations is broad and variable even for the same genetic mutation [3•]. Currently, infections have been used as the hallmark for immune defects; however, IEI could also manifest as allergy, inflammation, autoimmunity, and This article is part of the Topical Collection on Otitis * Anete S. Grumach [email protected] 1
Clinical Immunology, Reference Center for Rare Diseases, Faculdade de Medicina, Centro Universitario Saude ABC, Avenida Lauro Gomes, 2000, Santo Andre, SP 09060-870, Brazil
malignancies. Infections involving multiple organs, such as the respiratory tract, gastrointestinal tract, central nervous system, and skin, are more prevalent in IEI patients. They can affect primarily either upper a
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