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Page 1
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
Launay N, Ruiz M, Planas-Serra L, Verdura E, Rodríguez-Palmero A, Schlüter A, Goicoechea L, Guilera C, Casas J, Campelo F, Jouanguy E, Casanova JL, Boespflug-Tanguy O, Vazquez Cancela M, Gutiérrez-Solana LG, Casasnovas C, Area-Gomez E, Pujol A. Launay N, et al. Among authors: jouanguy e. J Clin Invest. 2023 Jul 17;133(14):e162836. doi: 10.1172/JCI162836. J Clin Invest. 2023. PMID: 37463447 Free PMC article.
Infections in IFNGR-1-deficient children.
Jouanguy E, Altare F, Lamhamedi-Cherradi S, Casanova JL. Jouanguy E, et al. J Interferon Cytokine Res. 1997 Oct;17(10):583-7. doi: 10.1089/jir.1997.17.583. J Interferon Cytokine Res. 1997. PMID: 9355958 Review.
Mendelian susceptibility to mycobacterial infection in man.
Altare F, Jouanguy E, Lamhamedi S, Döffinger R, Fischer A, Casanova JL. Altare F, et al. Among authors: jouanguy e. Curr Opin Immunol. 1998 Aug;10(4):413-7. doi: 10.1016/s0952-7915(98)80114-3. Curr Opin Immunol. 1998. PMID: 9722917 Review.
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.
Altare F, Lammas D, Revy P, Jouanguy E, Döffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, Salmon M, Fischer A, Durandy A, Casanova JL, Kumararatne DS. Altare F, et al. Among authors: jouanguy e. J Clin Invest. 1998 Dec 15;102(12):2035-40. doi: 10.1172/JCI4950. J Clin Invest. 1998. PMID: 9854038 Free PMC article.
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
de Villartay JP, Lim A, Al-Mousa H, Dupont S, Déchanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F. de Villartay JP, et al. Among authors: jouanguy e. J Clin Invest. 2005 Nov;115(11):3291-9. doi: 10.1172/JCI25178. J Clin Invest. 2005. PMID: 16276422 Free PMC article.
184 results