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Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants.
Bloch C, Jais JP, Gil M, Boubaya M, Lepelletier Y, Bader-Meunier B, Mahlaoui N, Garcelon N, Lambotte O, Launay D, Larroche C, Lazaro E, Liffermann F, Lortholary O, Michel M, Michot JM, Morel P, Cheminant M, Suarez F, Terriou L, Urbanski G, Viallard JF, Alcais A, Fischer A, de Saint Basile G, Hermine O; French HLH Study Group. Bloch C, et al. Among authors: fischer a. J Allergy Clin Immunol. 2024 Jan;153(1):256-264. doi: 10.1016/j.jaci.2023.07.023. Epub 2023 Sep 9. J Allergy Clin Immunol. 2024. PMID: 37678575 Free article.
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: fischer a. Am J Hum Genet. 2002 Jul;71(1):198-203. doi: 10.1086/341357. Epub 2002 May 24. Am J Hum Genet. 2002. PMID: 12032915 Free PMC article.
Gene therapy of X-linked severe combined immunodeficiency.
Cavazzana-Calvo M, Hacein-Bey-Abina S, Fischer A. Cavazzana-Calvo M, et al. Among authors: fischer a. Curr Opin Allergy Clin Immunol. 2002 Dec;2(6):507-9. doi: 10.1097/00130832-200212000-00005. Curr Opin Allergy Clin Immunol. 2002. PMID: 14752333 Review.
5,164 results