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Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, K… See abstract for full author list ➔ de Beaucoudrey L, et al. Among authors: pac m. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication.
Aghamohammadi A, Abolhassani H, Kutukculer N, Wassilak SG, Pallansch MA, Kluglein S, Quinn J, Sutter RW, Wang X, Sanal O, Latysheva T, Ikinciogullari A, Bernatowska E, Tuzankina IA, Costa-Carvalho BT, Franco JL, Somech R, Karakoc-Aydiner E, Singh S, Bezrodnik L, Espinosa-Rosales FJ, Shcherbina A, Lau YL, Nonoyama S, Modell F, Modell V; JMF Centers Network Investigators and Study Collaborators; Barbouche MR, McKinlay MA. Aghamohammadi A, et al. Front Immunol. 2017 Jun 13;8:685. doi: 10.3389/fimmu.2017.00685. eCollection 2017. Front Immunol. 2017. PMID: 28952612 Free PMC article.
Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome.
Pietrucha B, Heropolitanska-Pliszka E, Maciejczyk M, Car H, Sawicka-Powierza J, Motkowski R, Karpinska J, Hryniewicka M, Zalewska A, Pac M, Wolska-Kusnierz B, Bernatowska E, Mikoluc B. Pietrucha B, et al. Among authors: pac m. Oxid Med Cell Longev. 2017;2017:6745840. doi: 10.1155/2017/6745840. Epub 2017 Dec 31. Oxid Med Cell Longev. 2017. PMID: 29456787 Free PMC article.
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL. Bolze A, et al. Among authors: pac m. Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2. Proc Natl Acad Sci U S A. 2018. PMID: 30072435 Free PMC article.
BCG Moreau Vaccine Safety Profile and NK Cells-Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency.
Bernatowska E, Skomska-Pawliszak M, Wolska-Kuśnierz B, Pac M, Heropolitanska-Pliszka E, Pietrucha B, Bernat-Sitarz K, Dąbrowska-Leonik N, Bohynikova N, Piątosa B, Lutyńska A, Augustynowicz E, Augustynowicz-Kopeć E, Korzeniewska-Koseła M, Krasińska M, Krzysztopa-Grzybowska K, Wieteska-Klimczak A, Książyk J, Jackowska T, van den Burg M, van Dongen JJM, Casanova JL, Picard C, Mikołuć B. Bernatowska E, et al. Among authors: pac m. J Clin Immunol. 2020 Jan;40(1):138-146. doi: 10.1007/s10875-019-00709-1. Epub 2019 Nov 20. J Clin Immunol. 2020. PMID: 31749033 Free PMC article.
BCG Moreau Polish Substrain Infections in Patients With Inborn Errors of Immunity: 40 Years of Experience in the Department of Immunology, Children's Memorial Health Institute, Warsaw.
Bernatowska E, Pac M, Heropolitańska-Pliszka E, Pietrucha B, Dąbrowska-Leonik N, Skomska-Pawliszak M, Bernat-Sitarz K, Krzysztopa-Grzybowska K, Wolska-Kuśnierz B, Bohynikova N, Augustynowicz E, Augustynowicz-Kopeć E, Korzeniewska-Koseła M, Wieteska-Klimczak A, Książyk J, Jackowska T, van den Burg M, Casanova JL, Picard C, Mikołuć B. Bernatowska E, et al. Among authors: pac m. Front Pediatr. 2022 May 19;10:839111. doi: 10.3389/fped.2022.839111. eCollection 2022. Front Pediatr. 2022. PMID: 35664873 Free PMC article.
173 results