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Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation.
Bigley V, Maisuria S, Cytlak U, Jardine L, Care MA, Green K, Gunawan M, Milne P, Dickinson R, Wiscombe S, Parry D, Doffinger R, Laurence A, Fonseca C, Stoevesandt O, Gennery A, Cant A, Tooze R, Simpson AJ, Hambleton S, Savic S, Doody G, Collin M. Bigley V, et al. Among authors: collin m. J Allergy Clin Immunol. 2018 Jun;141(6):2234-2248. doi: 10.1016/j.jaci.2017.08.044. Epub 2017 Nov 8. J Allergy Clin Immunol. 2018. PMID: 29128673 Free PMC article.
Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth.
Soncini E, Slatter MA, Jones LB, Hughes S, Hodges S, Flood TJ, Barge D, Spickett GP, Jackson GH, Collin MP, Abinun M, Cant AJ, Gennery AR. Soncini E, et al. Among authors: collin mp. Br J Haematol. 2009 Apr;145(1):73-83. doi: 10.1111/j.1365-2141.2009.07614.x. Epub 2009 Feb 16. Br J Haematol. 2009. PMID: 19222467 Free article. Review.
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: collin m. 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.
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. Among authors: collin m. 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.
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: collin m. 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.
Human dendritic cell deficiency: the missing ID?
Collin M, Bigley V, Haniffa M, Hambleton S. Collin M, et al. Nat Rev Immunol. 2011 Aug 19;11(9):575-83. doi: 10.1038/nri3046. Nat Rev Immunol. 2011. PMID: 21852794 Review.
448 results