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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: sasa gs. 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.
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.
Off-the-Shelf Virus-Specific T Cells to Treat BK Virus, Human Herpesvirus 6, Cytomegalovirus, Epstein-Barr Virus, and Adenovirus Infections After Allogeneic Hematopoietic Stem-Cell Transplantation.
Tzannou I, Papadopoulou A, Naik S, Leung K, Martinez CA, Ramos CA, Carrum G, Sasa G, Lulla P, Watanabe A, Kuvalekar M, Gee AP, Wu MF, Liu H, Grilley BJ, Krance RA, Gottschalk S, Brenner MK, Rooney CM, Heslop HE, Leen AM, Omer B. Tzannou I, et al. J Clin Oncol. 2017 Nov 1;35(31):3547-3557. doi: 10.1200/JCO.2017.73.0655. Epub 2017 Aug 7. J Clin Oncol. 2017. PMID: 28783452 Free PMC article. Clinical Trial.
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
Hashem H, Kumar AR, Müller I, Babor F, Bredius R, Dalal J, Hsu AP, Holland SM, Hickstein DD, Jolles S, Krance R, Sasa G, Taskinen M, Koskenvuo M, Saarela J, van Montfrans J, Wilson K, Bosch B, Moens L, Hershfield M, Meyts I; Deficiency of Adenosine Deaminase Type 2 Foundation. Hashem H, et al. Blood. 2017 Dec 14;130(24):2682-2688. doi: 10.1182/blood-2017-07-798660. Epub 2017 Oct 3. Blood. 2017. PMID: 28974505 Free PMC article.
Outcomes after Allogeneic Transplant in Patients with Wiskott-Aldrich Syndrome.
Ngwube A, Hanson IC, Orange J, Rider NL, Seeborg F, Shearer W, Noroski L, Nicholas S, Forbes L, Leung K, Sasa G, Naik S, Hegde M, Omer B, Ahmed N, Allen C, Gottschalk S, Wu MF, Liu H, Brenner M, Heslop H, Krance R, Martinez C. Ngwube A, et al. Biol Blood Marrow Transplant. 2018 Mar;24(3):537-541. doi: 10.1016/j.bbmt.2017.11.019. Epub 2017 Nov 28. Biol Blood Marrow Transplant. 2018. PMID: 29196075 Free article. Clinical Trial.
Current Allogeneic Hematopoietic Stem Cell Transplantation for Pediatric Acute Lymphocytic Leukemia: Success, Failure and Future Perspectives-A Single-Center Experience, 2008 to 2016.
Yanir AD, Martinez CA, Sasa G, Leung K, Gottschalk S, Omer B, Ahmed N, Hegde M, Eunji J, Liu H, Heslop HE, Brenner MK, Krance RA, Naik S. Yanir AD, et al. Biol Blood Marrow Transplant. 2018 Jul;24(7):1424-1431. doi: 10.1016/j.bbmt.2018.03.001. Epub 2018 Mar 14. Biol Blood Marrow Transplant. 2018. PMID: 29550628 Free article.
High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease.
Yanir AD, Hanson IC, Shearer WT, Noroski LM, Forbes LR, Seeborg FO, Nicholas S, Chinn I, Orange JS, Rider NL, Leung KS, Naik S, Carrum G, Sasa G, Hegde M, Omer BA, Ahmed N, Allen CE, Khaled Y, Wu MF, Liu H, Gottschalk SM, Heslop HE, Brenner MK, Krance RA, Martinez CA. Yanir AD, et al. Biol Blood Marrow Transplant. 2018 Aug;24(8):1643-1650. doi: 10.1016/j.bbmt.2018.03.029. Epub 2018 Apr 6. Biol Blood Marrow Transplant. 2018. PMID: 29630926 Free article.
31 results