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A Cas9 nanoparticle system with truncated Cas9 target sequences on DNA repair templates enhances genome targeting in diverse human immune cell types

Autor: Theodore L. Roth, Francis C. Szoka, Eric Shifrut, Jeffrey A. Bluestone, Puck Jm, Murad R. Mamedov, Peixin Amy Chen, Jia Jie Li, David N. Nguyen, Ryan Apathy, Alexander Marson, Tobin, Daniel B. Goodman, Linda T. Vo

Virus-modified T cells are approved for cancer immunotherapy, but more versatile and precise genome modifications are needed for a wider range of adoptive cellular therapies1–4. We recently developed a non-viral CRISPR–Cas9 system for genomic sit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e256adbe001873bc098df8a6e71f5b
https://doi.org/10.1101/591719

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Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States

Autor: Kwan, A, Abraham, RS, Currier, R, Brower, A, Andruszewski, K, Abbott, JK, Baker, M, Ballow, M, Bartoshesky, LE, Bonilla, FA, Brokopp, C, Brooks, E, Caggana, M, Celestin, J, Church, JA, Comeau, AM, Connelly, JA, Cowan, MJ, Cunningham-Rundles, C, Dasu, T, Dave, N, De La Morena, MT, Duffner, U, Fong, CT, Forbes, L, Freedenberg, D, Gelfand, EW, Hale, JE, Hanson, IC, Hay, BN, Hu, D, Infante, A, Johnson, D, Kapoor, N, Kay, DM, Kohn, DB, Lee, R, Lehman, H, Lin, Z, Lorey, F, Abdel-Mageed, A, Manning, A, McGhee, S, Moore, TB, Naides, SJ, Notarangelo, LD, Orange, JS, Pai, SY, Porteus, M, Rodriguez, R, Romberg, N, Routes, J, Ruehle, M, Rubenstein, A, Saavedra-Matiz, CA, Scott, G, Scott, PM, Secord, E, Seroogy, C, Shearer, WT, Siegel, S, Silvers, SK, Stiehm, ER, Sugerman, RW, Sullivan, JL, Tanksley, S, Tierce, ML, Verbsky, J, Vogel, B, Walker, R, Walkovich, K, Walter, JE, Wasserman, RL, Watson, MS, Weinberg, GA, Weiner, LB, Wood, H, Yates, AB, Puck, JM

Publikováno v: Kwan, A; Abraham, RS; Currier, R; Brower, A; Andruszewski, K; Abbott, JK; et al.(2014). Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA-Journal of the American Medical Association, 312(7), 729-738. doi: 10.1001/jama.2014.9132. UCSF: Retrieved from: http://www.escholarship.org/uc/item/2qh1q6qx

Importance: Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::053891f8f39178fe506459192e3a44b3
http://www.escholarship.org/uc/item/2qh1q6qx

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Corrigendum: Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency [Front immunol, 5, (2014), 162] doi:10.3389/fimmu.2014.00162

Autor: Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Franco, JL, Gaspar, HB, Holland, SM, Klein, C, Nonoyama, S, Ochs, HD, Oksenhendler, E, Picard, C, Puck, JM, Sullivan, K, Tang, MLK

Publikováno v: Al-Herz, W; Bousfiha, A; Casanova, JL; Chatila, T; Conley, ME; Cunningham-Rundles, C; et al.(2014). Corrigendum: Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency [Front immunol, 5, (2014), 162] doi:10.3389/fimmu.2014.00162. Frontiers in Immunology, 5(SEP). doi: 10.3389/fimmu.2014.00460. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/15c2d46w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::3688e5522a0a14be12844fd4b4fc1110
http://www.escholarship.org/uc/item/15c2d46w

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Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome

Autor: O'Conner, A. C., Dentsc, B., Puck, Jm, Grimbacher, B., Facchetti, Fabio, Majorana, Alessandra, Gollin, J., Malech, H. L., Holland, S. M.

Publikováno v: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 89:177-185

Objective. To determine the incidence of abnormal tooth eruption in patients with hyperimmunoglobulinemia E (hyper-IgE) syndrome. Study design. This study evaluated 34 individuals with hyper-IgE syndrome (age range, 2-40 years). A comprehensive denta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d23302631a0748ecfd21fd2eb90cbdd
https://doi.org/10.1067/moe.2000.103129

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Autor: Puck, JM

Publikováno v: Puck, JM. (2013). Reply. Journal of Allergy and Clinical Immunology, 131(4), 1252-1253. doi: 10.1016/j.jaci.2012.09.040. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/3hx654dx

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::6e0c25e2e7394b8ebfcd2b59750410d7
http://www.escholarship.org/uc/item/3hx654dx

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Primary immunodeficiency mutation databases

Publikováno v: Karolinska Institutet
Advances in Genetics, Vol. 43 (2001) pp. 103-188

Primary immunodeficiencies are intrinsic defects of immune systems. Mutations in a large number of cellular functions can lead to impaired immune responses. More than 80 primary immunodeficiencies are known to date. During the last years genes for se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d6c0c74cf315ddcd578d4edce4c91378
https://pubmed.ncbi.nlm.nih.gov/11037300

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