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Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.
Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. Dickinson RE, et al. Among authors: hambleton s. Blood. 2011 Sep 8;118(10):2656-8. doi: 10.1182/blood-2011-06-360313. Epub 2011 Jul 15. Blood. 2011. PMID: 21765025 Free PMC article.
Low-strength T-cell activation promotes Th17 responses.
Purvis HA, Stoop JN, Mann J, Woods S, Kozijn AE, Hambleton S, Robinson JH, Isaacs JD, Anderson AE, Hilkens CM. Purvis HA, et al. Among authors: hambleton s. Blood. 2010 Dec 2;116(23):4829-37. doi: 10.1182/blood-2010-03-272153. Epub 2010 Aug 16. Blood. 2010. PMID: 20713963 Free PMC article.
Whole-exome-sequencing-based discovery of human FADD deficiency.
Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL. Bolze A, et al. Among authors: hambleton s. Am J Hum Genet. 2010 Dec 10;87(6):873-81. doi: 10.1016/j.ajhg.2010.10.028. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109225 Free PMC article.
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.
Morgan NV, Goddard S, Cardno TS, McDonald D, Rahman F, Barge D, Ciupek A, Straatman-Iwanowska A, Pasha S, Guckian M, Anderson G, Huissoon A, Cant A, Tate WP, Hambleton S, Maher ER. Morgan NV, et al. Among authors: hambleton s. J Clin Invest. 2011 Feb;121(2):695-702. doi: 10.1172/JCI41931. Epub 2011 Jan 4. J Clin Invest. 2011. PMID: 21206088 Free PMC article.
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency.
Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, McGovern N, Jardine L, Pagan S, Dimmick I, Chua I, Wallis J, Lordan J, Morgan C, Kumararatne DS, Doffinger R, van der Burg M, van Dongen J, Cant A, Dick JE, Hambleton S, Collin M. Bigley V, et al. Among authors: hambleton s. J Exp Med. 2011 Feb 14;208(2):227-34. doi: 10.1084/jem.20101459. Epub 2011 Jan 17. J Exp Med. 2011. PMID: 21242295 Free PMC article.
Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience.
Slatter MA, Rao K, Amrolia P, Flood T, Abinun M, Hambleton S, Nademi Z, Goulden N, Davies G, Qasim W, Gaspar HB, Cant A, Gennery AR, Veys P. Slatter MA, et al. Among authors: hambleton s. Blood. 2011 Apr 21;117(16):4367-75. doi: 10.1182/blood-2010-10-312082. Epub 2011 Feb 16. Blood. 2011. PMID: 21325599 Free article.
IRF8 mutations and human dendritic-cell immunodeficiency.
Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez L, Bacon CM, Menon G, Trouillet C, McDonald D, Carey P, Ginhoux F, Alsina L, Zumwalt TJ, Kong XF, Kumararatne D, Butler K, Hubeau M, Feinberg J, Al-Muhsen S, Cant A, Abel L, Chaussabel D, Doffinger R, Talesnik E, Grumach A, Duarte A, Abarca K, Moraes-Vasconcelos D, Burk D, Berghuis A, Geissmann F, Collin M, Casanova JL, Gros P. Hambleton S, et al. N Engl J Med. 2011 Jul 14;365(2):127-38. doi: 10.1056/NEJMoa1100066. Epub 2011 Apr 27. N Engl J Med. 2011. PMID: 21524210 Free PMC article.
Human dendritic cell deficiency: the missing ID?
Collin M, Bigley V, Haniffa M, Hambleton S. Collin M, et al. Among authors: hambleton s. Nat Rev Immunol. 2011 Aug 19;11(9):575-83. doi: 10.1038/nri3046. Nat Rev Immunol. 2011. PMID: 21852794 Review.
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Horvath R, Holinski-Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bässmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez-Koref M, Chinnery PF. Horvath R, et al. Among authors: hambleton s. Mov Disord. 2012 May;27(6):789-93. doi: 10.1002/mds.24980. Epub 2012 Apr 16. Mov Disord. 2012. PMID: 22508347
206 results