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Page 1
Loss of function of XBP1 splicing activity of IRE1α favors B cell tolerance breakdown.
Reuschlé Q, Van Heddegem L, Bosteels V, Moncan M, Depauw S, Wadier N, Maréchal S, De Nolf C, Delgado V, Messai Y, Stolzenberg MC, Magérus A, Werck A, Olagne J, Li Q, Lefevre G, Korganow AS, Rieux-Laucat F, Janssens S, Soulas-Sprauel P. Reuschlé Q, et al. Among authors: stolzenberg mc. J Autoimmun. 2024 Jan;142:103152. doi: 10.1016/j.jaut.2023.103152. Epub 2023 Dec 9. J Autoimmun. 2024. PMID: 38071801
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy.
Moes N, Rieux-Laucat F, Begue B, Verdier J, Neven B, Patey N, Torgerson TT, Picard C, Stolzenberg MC, Ruemmele C, Rings EH, Casanova JL, Piloquet H, Biver A, Breton A, Ochs HD, Hermine O, Fischer A, Goulet O, Cerf-Bensussan N, Ruemmele FM. Moes N, et al. Among authors: stolzenberg mc. Gastroenterology. 2010 Sep;139(3):770-8. doi: 10.1053/j.gastro.2010.06.006. Epub 2010 Jun 9. Gastroenterology. 2010. PMID: 20537998
Comment on: Monogenic mimics of Behçet's disease in the young.
Aeschlimann FA, Stolzenberg MC, Rieux-Laucat F, Bustaffa M, Quartier P, Lyonnet S, Romana S, Bader-Meunier B. Aeschlimann FA, et al. Among authors: stolzenberg mc. Rheumatology (Oxford). 2020 Nov 1;59(11):e109-e111. doi: 10.1093/rheumatology/kez543. Rheumatology (Oxford). 2020. PMID: 31725163 No abstract available.
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. Boussard C, et al. Among authors: stolzenberg mc. Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. Blood. 2023. PMID: 36952639 Free article.
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: stolzenberg mc. Nat Commun. 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7. Nat Commun. 2023. PMID: 37349339 Free PMC article.
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Pellé O, Moreno S, Lorenz MR, Riller Q, Fuehrer M, Stolzenberg MC, Maccari ME, Lenoir C, Cheminant M, Hinze T, Hebart HF, König C, Schvartz A, Schmitt Y, Vinit A, Henry E, Touzart A, Villarese P, Isnard P, Neveux N, Landman-Parker J, Picard C, Fouyssac F, Neven B, Grimbacher B, Speckmann C, Fischer A, Latour S, Schwarz K, Ehl S, Rieux-Laucat F, Rensing-Ehl A, Magérus A. Pellé O, et al. Among authors: stolzenberg mc. J Allergy Clin Immunol. 2024 Jan;153(1):203-215. doi: 10.1016/j.jaci.2023.09.028. Epub 2023 Oct 2. J Allergy Clin Immunol. 2024. PMID: 37793571
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
Consonni F, Moreno S, Vinuales Colell B, Stolzenberg MC, Fernandes A, Parisot M, Masson C, Neveux N, Rosain J, Bamberger S, Vigue MG, Malphettes M, Quartier P, Picard C, Rieux-Laucat F, Magerus A. Consonni F, et al. Among authors: stolzenberg mc. Cell Death Dis. 2024 May 4;15(5):315. doi: 10.1038/s41419-024-06679-6. Cell Death Dis. 2024. PMID: 38704374 Free PMC article.
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Jeanpierre M, Cognard J, Tusseau M, Riller Q, Bui LC, Berthelet J, Laurent A, Crickx E, Parlato M, Stolzenberg MC, Suarez F, Leverger G, Aladjidi N, Collardeau-Frachon S, Pietrement C, Malphettes M, Froissart A, Bole-Feysot C, Cagnard N, Rodrigues Lima F, Walzer T, Rieux-Laucat F, Belot A, Mathieu AL. Jeanpierre M, et al. Among authors: stolzenberg mc. J Exp Med. 2024 Sep 2;221(9):e20232337. doi: 10.1084/jem.20232337. Epub 2024 Jul 19. J Exp Med. 2024. PMID: 39028869
46 results