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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. Stray-Pedersen A, et al. Among authors: osnes lt. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Am J Hum Genet. 2014. PMID: 24931394 Free PMC article.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Stray-Pedersen A, et al. Among authors: osnes ltn. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27577878 Free PMC article.
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.
Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A. Sorte HS, et al. Mol Genet Genomic Med. 2016 Sep 17;4(6):604-616. doi: 10.1002/mgg3.237. eCollection 2016 Nov. Mol Genet Genomic Med. 2016. PMID: 27896283 Free PMC article.
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand J, Gul KA, Erichsen HC, Lundman E, Berge MC, Trømborg AK, Sørgjerd LK, Ytre-Arne M, Hogner S, Halsne R, Gaup HJ, Osnes LT, Kro GAB, Sorte HS, Mørkrid L, Rowe AD, Tangeraas T, Jørgensen JV, Alme C, Bjørndalen TEH, Rønnestad AE, Lang AM, Rootwelt T, Buechner J, Øverland T, Abrahamsen TG, Pettersen RD, Stray-Pedersen A. Strand J, et al. Among authors: osnes lt. Front Immunol. 2020 Jul 9;11:1417. doi: 10.3389/fimmu.2020.01417. eCollection 2020. Front Immunol. 2020. PMID: 32754152 Free PMC article.
Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation.
Jørgensen SF, Trøseid M, Kummen M, Anmarkrud JA, Michelsen AE, Osnes LT, Holm K, Høivik ML, Rashidi A, Dahl CP, Vesterhus M, Halvorsen B, Mollnes TE, Berge RK, Moum B, Lundin KE, Fevang B, Ueland T, Karlsen TH, Aukrust P, Hov JR. Jørgensen SF, et al. Among authors: osnes lt. Mucosal Immunol. 2016 Nov;9(6):1455-1465. doi: 10.1038/mi.2016.18. Epub 2016 Mar 16. Mucosal Immunol. 2016. PMID: 26982597 Free article.
A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency.
Jørgensen SF, Reims HM, Frydenlund D, Holm K, Paulsen V, Michelsen AE, Jørgensen KK, Osnes LT, Bratlie J, Eide TJ, Dahl CP, Holter E, Tronstad RR, Hanevik K, Brattbakk HR, Kaveh F, Fiskerstrand T, Kran AB, Ueland T, Karlsen TH, Aukrust P, Lundin KE, Fevang B. Jørgensen SF, et al. Am J Gastroenterol. 2016 Oct;111(10):1467-1475. doi: 10.1038/ajg.2016.329. Epub 2016 Aug 16. Am J Gastroenterol. 2016. PMID: 27527747
41 results