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1.
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Julian Thalhammer, Gerhard Kindle, Alexandra Nieters, Stephan Rusch, Mikko R. J. Seppänen, Alain Fischer, Bodo Grimbacher, David Edgar, Matthew Buckland, Nizar Mahlaoui, 2021, original scientific article

Abstract: Background. Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective. We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods. We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results. Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions. An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
Keywords: immunity, autoimmune diseases, inflammation, signs and symptoms, registries, inborn error of immunity, primary immunodeficiency, immune dysregulation
Published in DiRROS: 28.05.2021; Views: 624; Downloads: 121
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2.
Towards personalization of asthma treatment according to trigger factors
Katarzyna Niespodziana, Kristina Borochova, Petra Pazderova, Thomas Schlederer, Natalia Astafyeva, Tatiana Baranovskaya, Mohamed-Ridha Barbouche, Evgenyi Beltiukov, Angelika Berger, Elena Borzova, Jean Bousquet, Mihaela Zidarn, Rudolf Valenta, 2020, original scientific article

Abstract: Asthma is a severe and chronic disabling disease affecting more than 300 million people world-wide. While in the past few drugs for treatment of asthma were available, new treatment options are currently emerging which appear to be highly effective in certain subgroups of patients. Accordingly there is a need for biomarkers which allow selection of patients for refined and personalized treatment strategies. Recently, serological chip tests based on micro-arrayed allergen molecules and peptides derived from the most common rhinovirus strains have been developed which may discriminate two of the most common forms of asthma, i.e., allergen- and virus-triggered asthma. In this perspective we argue that classification of asthma patients according to these common trigger factors may open new possibilities for personalized management of asthma.
Keywords: allergy and immunology, asthma, signs and symptoms, respiratory, rhinovirus, allergens, microarray analysis, precision medicine, wheeze
Published in DiRROS: 31.07.2020; Views: 1791; Downloads: 673
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