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TITLE: Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance  Full Text
AUTHORS: Oleaga Quintas, C; de Oliveira, EB; Rosain, J; Rapaport, F; Deswarte, C; Guerin, A; Sajjath, SM; Zhou, YJ; Marot, S; Lozano, C; Branco, L; Fernandez Hidalgo, N; Lew, DB; Brunel, AS; Thomas, C; Launay, E; Arias, AA; Cuffel, A; Monjo, VC; Neehus, AL; Marques, L; Roynard, M; Moncada Velez, M; Gerceker, B; Colobran, R; Vigue, MG; Lopez Herrera, G; Berron Ruiz, L; Mendez, NHS; Romanillos, PO; Le Voyer, T; Puel, A; Bellanne Chantelot, C; Ramirez, KA; Lorenzo Diaz, L; Alejo, NR; de Diego, RP; Condino Neto, A; Mellouli, F; Rodriguez Gallego, C; Witte, T; Restrepo, JF; Jobim, M; Boisson Dupuis, S; Jeziorski, E; Fieschi, C; Vogt, G; Donadieu, J; Pasquet, M; Vasconcelos, J; Ardeniz, FO; Martinez Gallo, M; Campos, RA; Jobim, LF; Martinez Barricarte, R; Liu, K; Cobat, A; Abel, L; Casanova, JL; Bustamante, J; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY
INDEXED IN: Scopus WOS
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TITLE: Inherited p40(phox) deficiency differs from classic chronic granulomatous disease
AUTHORS: Annemarie van de Geer; Alejandro Nieto Patlan; Douglas B Kuhns; Anton T J Tool; Andres A Arias; Matthieu Bouaziz; Martin de Boer; Jose L Luis Franco; Roel P Gazendam; John L van Hamme; Michel van Houdt; Karin van Leeuwen; Paul J H Verkuijlen; Timo K van den Berg; Juan F Alzate; Carlos A Arango Franco; Vritika Batura; Andrea R Bernasconi; Barbara Boardman; Claire Booth; Siobhan O Burns; Felipe Cabarcas; Nadine Cerf Bensussan; Fabienne Charbit Henrion; Anniek Corveleyn; Caroline Deswarte; Maria E Esnaola Azcoiti; Dirk Foell; John I Gallin; Carlos Garces; Margarida Guedes; Claas H Hinze; Steven M Holland; Stephen M Hughes; Patricio Ibanez; Harry L Malech; Isabelle Meyts; Marcela Moncada Velez; Kunihiko Moriya; Esmeralda Neves; Matias Oleastro; Laura Perez; Vimel Rattina; Carmen Oleaga Quintas; Neil Warner; Aleixo M Muise; Jeanet S Serafin Lopez; Eunice Trindade; Julia Vasconcelos; Severine Vermeire; Helmut Wittkowski; Austen Worth; Laurent Abel; Mary C Dinauer; Peter D Arkwright; Dirk Roos; Jean Laurent Casanova; Taco W Kuijpers; Jacinta Bustamante; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 128, ISSUE: 9
INDEXED IN: Scopus WOS
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TITLE: Copy number variations and founder effect underlying complete IL-10R beta deficiency in Portuguese kindreds  Full Text
AUTHORS: Fabienne Charbit Henrion; Bernadette Begue; Anais Sierra; Sylvain Hanein; Marie Claude Stolzenberg; Zhi Li; Sandra Pellegrini; Nicolas Garcelon; Marc Jeanpierre; Benedicte Neven; Isabelle Loge; Capucine Picard; Jeremie Rosain; Jacinta Bustamante; Marc Le Lorc'h; Benedicte Pigneur; Alicia Fernandes; Frederic Rieux Laucat; Jorge Amil Dias; Frank M Ruemmele; Nadine Cerf Bensussan; ...More
PUBLISHED: 2018, SOURCE: PLOS ONE, VOLUME: 13, ISSUE: 10
INDEXED IN: Scopus WOS