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J. A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

Autor: Chou, J, Hanna Wakim, R, Tirosh, I, Kane, J, Fraulino, D, Lee, Yn, Ghanem, S, Mahfouz, I, Megarbane, A, Lefranc, G, Inati, A, Dbaibo, G, Giliani, Silvia Clara, Notarangelo, Ld, Geha, Rs, Massaad, M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3662::9c0f2b0fb0d6561daf0e1416ab6d3357
http://hdl.handle.net/11379/164280

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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

Autor: Jabara HH; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Boyden SE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Chou J; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Ramesh N; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Massaad MJ; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Benson H; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA., Bainter W; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA., Fraulino D; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA., Rahimov F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Sieff C; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Division of Hematology, Boston Children's Hospital, Boston, Massachusetts, USA., Liu ZJ; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Division of Neonatology, Boston Children's Hospital, Boston, Massachusetts, USA., Alshemmari SH; Department of Medicine, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Al-Ramadi BK; Department of Medical Microbiology and Immunology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Al-Dhekri H; King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Arnaout R; King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abu-Shukair M; Immunology, Allergy and Rheumatology Division, Queen Rania Hospital for Children, Amman, Jordan., Vatsayan A; Department of Pediatric Hematology/Oncology, University Hospitals Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio, USA., Silver E; Division of Pulmonology and Sleep Medicine, University Hospitals Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio, USA., Ahuja S; Department of Pediatric Hematology/Oncology, University Hospitals Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio, USA., Davies EG; Centre for Immunodeficiency, Great Ormond Street Hospital and Institute of Child Health, London, UK., Sola-Visner M; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Division of Neonatology, Boston Children's Hospital, Boston, Massachusetts, USA., Ohsumi TK; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.; Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA., Andrews NC; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.; Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, North Carolina, USA., Notarangelo LD; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Fleming MD; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Al-Herz W; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Kunkel LM; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Geha RS; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.

Publikováno v: Nature genetics [Nat Genet] 2016 Jan; Vol. 48 (1), pp. 74-8. Date of Electronic Publication: 2015 Dec 07.