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NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L, Carbone F, Riller Q, Zachayus JL, Kerbellec E, Buzy A, Stolzenberg MC, Luka M, de Cevins C, Kalouche G, Favier R, Michel A, Meynier S, Corneau A, Evrard C, Neveux N, Roudières S, Pérot BP, Fusaro M, Lenoir C, Pellé O, Parisot M, Bras M, Héritier S, Leverger G, Korganow AS, Picard C, Latour S, Collet B, Fischer A, Neven B, Magérus A, Ménager M, Pasquier B, Rieux-Laucat F. Delage L, et al. Among authors: fischer a. Nat Commun. 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7. Nat Commun. 2023. PMID: 37349339 Free PMC article.
Cell-death signaling and human disease.
Rieux-Laucat F, Fischer A, Deist FL. Rieux-Laucat F, et al. Among authors: fischer a. Curr Opin Immunol. 2003 Jun;15(3):325-31. doi: 10.1016/s0952-7915(03)00042-6. Curr Opin Immunol. 2003. PMID: 12787759 Review.
Autoimmune lymphoproliferative syndrome with somatic Fas mutations.
Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM, Blanche S, Bartunkova J, Vilmer E, Fischer A, Le Deist F, Rieux-Laucat F. Holzelova E, et al. Among authors: fischer a. N Engl J Med. 2004 Sep 30;351(14):1409-18. doi: 10.1056/NEJMoa040036. N Engl J Med. 2004. PMID: 15459302 Free article.
Burkholderia pseudomallei infection in chronic granulomatous disease.
Renella R, Perez JM, Chollet-Martin S, Sarnacki S, Fischer A, Blanche S, Casanova JL, Picard C. Renella R, et al. Among authors: fischer a. Eur J Pediatr. 2006 Mar;165(3):175-7. doi: 10.1007/s00431-005-0022-y. Epub 2005 Dec 3. Eur J Pediatr. 2006. PMID: 16328364
Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome.
Picard C, Mellouli F, Duprez R, Chédeville G, Neven B, Fraitag S, Delaunay J, Le Deist F, Fischer A, Blanche S, Bodemer C, Gessain A, Casanova JL, Bejaoui M. Picard C, et al. Among authors: fischer a. Eur J Pediatr. 2006 Jul;165(7):453-7. doi: 10.1007/s00431-006-0107-2. Epub 2006 Apr 7. Eur J Pediatr. 2006. PMID: 16602009
5,154 results