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Interstitial Lung Disease in Children With Selected Primary Immunodeficiency Disorders-A Multicenter Observational Study.

Autor: Pac M; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland., Bielecka T; Department of Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Poland., Grzela K; Department of Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Poland., Komarnicka J; Department of Radiology, Jan Polikarp Brudziński Pediatric Hospital, Warsaw, Poland.; Department of Radiology, Children's Memorial Health Institute, Warsaw, Poland., Langfort R; Department of Pathology, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland., Koltan S; Department of Pediatrics, Hematology and Oncology, Collegium Medicum Bydgoszcz, UMK Toruń, Bydgoszcz, Poland., Dabrowska-Leonik N; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland., Bernat-Sitarz K; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland., Pronicki M; Department of Pathology, Children's Memorial Health Institute, Warsaw, Poland., Dmenska H; The Pulmonology Outpatient's Clinic, Children's Memorial Health Institute, Warsaw, Poland., Pituch-Noworolska A; University Children Hospital in Cracow, Medical College, Jagiellonian University, Cracow, Poland., Mikoluc B; Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok, Bialystok, Poland., Piatosa B; Histocompatibility Laboratory, Children's Memorial Health Institute (IPCZD), Warsaw, Poland., Tkaczyk K; Histocompatibility Laboratory, Children's Memorial Health Institute (IPCZD), Warsaw, Poland., Bernatowska E; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland., Wojsyk-Banaszak I; Department of Pneumonology, Pediatric Allergology and Clinical Immunology, Poznań University of Medical Sciences, Poznań, Poland., Krenke K; Department of Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Poland.

Publikováno v: Frontiers in immunology [Front Immunol] 2020 Aug 27; Vol. 11, pp. 1950. Date of Electronic Publication: 2020 Aug 27 (Print Publication: 2020).

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.

Autor: Zlotina, Anna¹ (AUTHOR) anna-zlotina@yandex.ru, Barashkova, Svetlana^1,2 (AUTHOR), Zhuk, Sergey¹ (AUTHOR), Skitchenko, Rostislav¹ (AUTHOR), Usoltsev, Dmitrii^3,4 (AUTHOR), Sokolnikova, Polina¹ (AUTHOR), Artomov, Mykyta^3,4 (AUTHOR), Alekseenko, Svetlana² (AUTHOR), Simanova, Tatiana⁵ (AUTHOR), Goloborodko, Maria² (AUTHOR), Berleva, Olga² (AUTHOR), Kostareva, Anna^1,6 (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 8/23/2024, Vol. 19 Issue 1, p1-23. 23p.

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.

Autor: Bukowy-Bieryllo Z; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland zuzanna.bukowy-bieryllo@igcz.poznan.pl., Rabiasz A; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Dabrowski M; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Pogorzelski A; Rabka Branch, Institute of Tuberculosis and Lung Diseases, Rabka-Zdroj, Poland., Wojda A; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Dmenska H; Department of Lung Physiology, Children's Memorial Health Institute, Warsaw, Poland., Grzela K; Departments of Pulmonology and Allergy, Warsaw Medical University, Warsaw, Poland., Sroczynski J; Department of Paediatric Otolaryngology, Poznan University of Medical Sciences, Poznan, Wielkopolskie, Poland., Witt M; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Zietkiewicz E; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.

Publikováno v: Journal of medical genetics [J Med Genet] 2019 Nov; Vol. 56 (11), pp. 769-777. Date of Electronic Publication: 2019 Jul 31.

IPD1.08 Five years observational study of fungal colonsation in CF pediatric patients

Autor: Romanowska, E., Dmenska, H., Semczuk, K., Wojcieszek, A., DzierZanowska-Fangrat, K.

Publikováno v: In Journal of Cystic Fibrosis June 2017 16 Supplement 1:S57-S57