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1.	Donkó, Á, et al. (author) Clinical and functional spectrum of RAC2-related immunodeficiency 2024 In: Blood. - 1528-0020. ; 143:15, s. 1476-1487 Journal article (peer-reviewed)
2.	Kaustio, M, et al. (author) Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes 2017 In: The Journal of allergy and clinical immunology. - : Elsevier BV. - 1097-6825 .- 0091-6749. ; 140:3, s. 782-796 Journal article (peer-reviewed)
3.	Tuovinen, EA, et al. (author) Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae 2023 In: Clinical immunology (Orlando, Fla.). - : Elsevier BV. - 1521-7035 .- 1521-6616. ; 246, s. 109181- Journal article (peer-reviewed)
4.	Tuovinen, EA, et al. (author) Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae 2023 In: Clinical immunology (Orlando, Fla.). - : Elsevier BV. - 1521-7035 .- 1521-6616. ; 246, s. 109181- Journal article (peer-reviewed)
5.	Haapaniemi, EM, et al. (author) Dominant NFKB1 Mutations Cause Antibody Deficiency and Autoinflammatory Episodes 2015 In: BLOOD. - 0006-4971. ; 126:23 Conference paper (other academic/artistic)
6.	Kostjukovits, S, et al. (author) Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia 2017 In: The Journal of allergy and clinical immunology. - : Elsevier BV. - 1097-6825 .- 0091-6749. ; 140:2, s. 612- Journal article (other academic/artistic)
7.	Selenius, JS, et al. (author) Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland 2017 In: Frontiers in immunology. - : Frontiers Media SA. - 1664-3224. ; 8, s. 1190- Journal article (peer-reviewed)
8.	Vakkilainen, S, et al. (author) Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study 2021 In: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 41:5, s. 1064-1071 Journal article (peer-reviewed)abstract Cartilage-hair hypoplasia is a syndromic immunodeficiency with short stature, chondrodysplasia, and variable degree of immune dysfunction. Patients with cartilage-hair hypoplasia are prone to recurrent respiratory tract infections, and the prevalence of bronchiectasis ranges from 29 to 52%. Pulmonary complications contribute significantly to the mortality; therefore, regular lung imaging is essential. However, the optimal schedule for repeated lung imaging remains unestablished. We determined the rate and correlates of progression of structural lung changes in a prospectively followed cohort of 16 patients with cartilage-hair hypoplasia. We analyzed clinical, laboratory, and pulmonary functional testing data and performed lung magnetic resonance imaging at a median interval of 6.8 years since previous imaging. Imaging findings remained identical or improved due to disappearance of inflammatory changes in all evaluated patients. Patients with subtle signs of bronchiectasis on imaging tended to have low immunoglobulin M levels, as well as suffered from pneumonia during the follow-up. In conclusion, our results suggest slow if any development of bronchiectasis in selected subjects with cartilage-hair hypoplasia.

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Result 1-8 of 8

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Type of publication: journal article (7); conference paper (1)

Type of content: peer-reviewed (6); other academic/artistic (2)

Author/Editor: Kere, J (5); Saarela, J. (5); Seppanen, M (4); Varjosalo, M (4); Taipale, J (2); Katayama, S (2); show more...; Einarsdottir, E (2); Makitie, O (2); Mustjoki, S (2); Wartiovaara-Kautto, ... (2); Klemetti, P (2); Fischer, A. (1); Haapaniemi, E. (1); Morgunova, E (1); Abolhassani, H (1); Kapoor, N (1); Jarvinen, A (1); Notarangelo, LD (1); Mukhina, AA (1); Shcherbina, A (1); Klein, C. (1); Farkkila, M (1); Hall, G. (1); Moshous, D (1); Valta, H (1); Krjutskov, K (1); Campbell, N. (1); Taskinen, M (1); Vakkilainen, S (1); Park, G. (1); Holland, SM (1); Sahu, B (1); Kostjukovits, S (1); Toiviainen-Salo, S (1); Mattila, E. (1); Fogarty, C (1); Walter, J (1); Eklund, K (1); Ganesan, S (1); Sharapova, SO (1); Siitonen, S. (1); Abbott, J. (1); Masmas, TN (1); Miano, M (1); Donkó, Á (1); Kabat, J (1); Hauck, FH (1); Bergerson, JRE (1); Marois, L (1); Williams, KW (1); show less...

University: Karolinska Institutet (8)

Language: English (8)

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