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Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G. Pachlopnik Schmid J, et al. Among authors: de villartay jp, de saint basile g. J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. J Exp Med. 2012. PMID: 23230001 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.
165 results