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Page 1
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
Martin E, Minet N, Boschat AC, Sanquer S, Sobrino S, Lenoir C, de Villartay JP, Leite-de-Moraes M, Picard C, Soudais C, Bourne T, Hambleton S, Hughes SM, Wynn RF, Briggs TA; Genomics England Research Consortium; Patel S, Lawrence MG, Fischer A, Arkwright PD, Latour S. Martin E, et al. Among authors: de villartay jp. JCI Insight. 2020 Mar 12;5(5):e133880. doi: 10.1172/jci.insight.133880. JCI Insight. 2020. PMID: 32161190 Free PMC article.
Primary membrane T cell immunodeficiencies.
Le Deist F, de Saint Basile G, Mazerolles F, Thoenes G, De Villartay JP, Cerf-Bensussan N, Lisowska-Grospierre B, Griscelli C, Fischer A. Le Deist F, et al. Among authors: de villartay jp, de saint basile g. Clin Immunol Immunopathol. 1991 Nov;61(2 Pt 2):S56-60. doi: 10.1016/s0090-1229(05)80038-8. Clin Immunol Immunopathol. 1991. PMID: 1834382 Review.
T cell activation deficiencies.
Le Deist F, Hivroz C, Partiseti M, Rieux-Laucat F, Debatin KM, Choquet D, De Villartay JP, Fischer A. Le Deist F, et al. Among authors: de villartay jp. Clin Immunol Immunopathol. 1995 Sep;76(3 Pt 2):S163-4. doi: 10.1016/s0090-1229(95)90072-1. Clin Immunol Immunopathol. 1995. PMID: 7554460 Review. No abstract available.
Around the V(D)J recombinase machinery.
de Villartay JP, Rieux-Laucat F, Fischer A. de Villartay JP, et al. Res Immunol. 1994 Feb;145(2):151-4; discussion 155-8. doi: 10.1016/s0923-2494(94)80030-8. Res Immunol. 1994. PMID: 8079049 Review. No abstract available.
168 results