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Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N. Gayden T, et al. Among authors: mitchell d. Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. Nat Genet. 2018. PMID: 30374066
Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.
McCusker C, Hotte S, Le Deist F, Hirschfeld AF, Mitchell D, Nguyen VH, Gagnon R, Mazer B, Turvey SE, Jabado N. McCusker C, et al. Among authors: mitchell d. Clin Immunol. 2009 Jun;131(3):447-55. doi: 10.1016/j.clim.2009.01.014. Epub 2009 Feb 25. Clin Immunol. 2009. PMID: 19246248
Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N. Gayden T, et al. Among authors: mitchell d. Nat Genet. 2019 Jan;51(1):196. doi: 10.1038/s41588-018-0304-8. Nat Genet. 2019. PMID: 30429576
Atypical presentation of acute promyelocytic leukaemia.
Stankova J, Mitchell D, Bernard C, Farmer JP, Faingold R, Jabado N. Stankova J, et al. Among authors: mitchell d. Br J Haematol. 2006 Feb;132(3):379-80. doi: 10.1111/j.1365-2141.2005.05879.x. Br J Haematol. 2006. PMID: 16409304 Free article. No abstract available.
4,344 results