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Page 1
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K. Ghosh S, et al. Among authors: choo s. Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. Blood. 2020. PMID: 32603431 Free PMC article. Clinical Trial.
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, Choo S, Wang N, Tesselaar K, Fang M, Bienemann K, Boztug K, Daneva A, Mechinaud F, Wiesel T, Becker C, Dückers G, Siepermann K, van Zelm MC, Rezaei N, van der Burg M, Aghamohammadi A, Seidel MG, Niehues T, Hammarström L. Alkhairy OK, et al. Among authors: choo s. J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10. doi: 10.1016/j.jaci.2015.02.022. Epub 2015 Apr 3. J Allergy Clin Immunol. 2015. PMID: 25843314
Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity.
Edwards ESJ, Bier J, Cole TS, Wong M, Hsu P, Berglund LJ, Boztug K, Lau A, Gostick E, Price DA, O'Sullivan M, Meyts I, Choo S, Gray P, Holland SM, Deenick EK, Uzel G, Tangye SG. Edwards ESJ, et al. Among authors: choo s. J Allergy Clin Immunol. 2019 Jan;143(1):276-291.e6. doi: 10.1016/j.jaci.2018.04.030. Epub 2018 May 22. J Allergy Clin Immunol. 2019. PMID: 29800648
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.
Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS. Pillay BA, et al. Among authors: choo s. JCI Insight. 2019 Apr 25;5(11):e127527. doi: 10.1172/jci.insight.127527. JCI Insight. 2019. PMID: 31021819 Free PMC article.
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB. Booth C, et al. Among authors: choo s. Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6. Blood. 2011. PMID: 20926771 Free PMC article.
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Förster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG. Salzer E, et al. Among authors: choo s. Haematologica. 2013 Mar;98(3):473-8. doi: 10.3324/haematol.2012.068791. Epub 2012 Jul 16. Haematologica. 2013. PMID: 22801960 Free PMC article.
Functional STAT3 deficiency compromises the generation of human T follicular helper cells.
Ma CS, Avery DT, Chan A, Batten M, Bustamante J, Boisson-Dupuis S, Arkwright PD, Kreins AY, Averbuch D, Engelhard D, Magdorf K, Kilic SS, Minegishi Y, Nonoyama S, French MA, Choo S, Smart JM, Peake J, Wong M, Gray P, Cook MC, Fulcher DA, Casanova JL, Deenick EK, Tangye SG. Ma CS, et al. Among authors: choo s. Blood. 2012 Apr 26;119(17):3997-4008. doi: 10.1182/blood-2011-11-392985. Epub 2012 Mar 8. Blood. 2012. PMID: 22403255 Free PMC article.
1,027 results