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Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A. Bayer DK, et al. Clin Exp Immunol. 2014 Dec;178(3):459-69. doi: 10.1111/cei.12421. Clin Exp Immunol. 2014. PMID: 25046553 Free PMC article.
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM. Stray-Pedersen A, et al. J Clin Immunol. 2014 Oct;34(7):871-90. doi: 10.1007/s10875-014-0074-8. Epub 2014 Jul 30. J Clin Immunol. 2014. PMID: 25073507 Free PMC article.
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ. Yu H, et al. J Allergy Clin Immunol. 2016 Oct;138(4):1142-1151.e2. doi: 10.1016/j.jaci.2016.05.035. Epub 2016 Jul 12. J Allergy Clin Immunol. 2016. PMID: 27484032
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.
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. Front Immunol. 2020 Jul 9;11:1417. doi: 10.3389/fimmu.2020.01417. eCollection 2020. Front Immunol. 2020. PMID: 32754152 Free PMC article.
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D, Gaup HJ, Lilje R, Zetterström RH, Stray-Pedersen A, Rootwelt T, Rinaldo P, Rowe AD, Pettersen RD. Tangeraas T, et al. Int J Neonatal Screen. 2020 Jun 27;6(3):51. doi: 10.3390/ijns6030051. eCollection 2020 Sep. Int J Neonatal Screen. 2020. PMID: 33123633 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33239577
Primary immunodeficiency diseases in Norway.
Stray-Pedersen A, Abrahamsen TG, Frøland SS. Stray-Pedersen A, et al. J Clin Immunol. 2000 Nov;20(6):477-85. doi: 10.1023/a:1026416017763. J Clin Immunol. 2000. PMID: 11202238
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. 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.
126 results