Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

8 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects.
de Calbiac H, Renault S, Haouy G, Jung V, Roger K, Zhou Q, Campanari ML, Chentout L, Demy DL, Marian A, Goudin N, Edbauer D, Guerrera C, Ciura S, Kabashi E. de Calbiac H, et al. Among authors: chentout l. Autophagy. 2024 Oct;20(10):2164-2185. doi: 10.1080/15548627.2024.2358736. Epub 2024 Sep 24. Autophagy. 2024. PMID: 39316747 Free PMC article.
Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction.
Poggi L, Chentout L, Lizot S, Boyne A, Juillerat A, Moiani A, Luka M, Carbone F, Ménager M, Cavazzana M, Duchateau P, Valton J, Kracker S. Poggi L, et al. Among authors: chentout l. Mol Ther Methods Clin Dev. 2023 Oct 10;31:101133. doi: 10.1016/j.omtm.2023.101133. eCollection 2023 Dec 14. Mol Ther Methods Clin Dev. 2023. PMID: 38152700 Free PMC article.
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.
Thouenon R, Chentout L, Moreno-Corona N, Poggi L, Lombardi EP, Hoareau B, Schmitt Y, Lagresle-Peyrou C, Bustamante J, André I, Cavazzana M, Durandy A, Casanova JL, Galicier L, Fadlallah J, Fischer A, Kracker S. Thouenon R, et al. Among authors: chentout l. J Exp Med. 2023 Jun 5;220(6):e20221292. doi: 10.1084/jem.20221292. Epub 2023 Mar 14. J Exp Med. 2023. PMID: 36917008 Free PMC article.
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: chentout l. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.
Moreno-Corona N, Chentout L, Poggi L, Thouenon R, Masson C, Parisot M, Mouel LL, Picard C, André I, Cavazzana M, Perrin L, Durandy A, Azarnoush S, Kracker S. Moreno-Corona N, et al. Among authors: chentout l. Front Pediatr. 2021 Jun 24;9:688022. doi: 10.3389/fped.2021.688022. eCollection 2021. Front Pediatr. 2021. PMID: 34249818 Free PMC article.
Loss of ARHGEF1 causes a human primary antibody deficiency.
Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A, Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O, Bras M, Molina TJ, Cavazzana M, André-Schmutz I, Durandy A, Fischer A, Oksenhendler E, Kracker S. Bouafia A, et al. Among authors: chentout l. J Clin Invest. 2019 Mar 1;129(3):1047-1060. doi: 10.1172/JCI120572. Epub 2019 Feb 4. J Clin Invest. 2019. PMID: 30521495 Free PMC article.
Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).
Heurtier L, Lamrini H, Chentout L, Deau MC, Bouafia A, Rosain J, Plaza JM, Parisot M, Dumont B, Turpin D, Merlin E, Moshous D, Aladjidi N, Neven B, Picard C, Cavazzana M, Fischer A, Durandy A, Stephan JL, Kracker S. Heurtier L, et al. Among authors: chentout l. Haematologica. 2017 Jul;102(7):e278-e281. doi: 10.3324/haematol.2017.167601. Epub 2017 Apr 20. Haematologica. 2017. PMID: 28428270 Free PMC article. No abstract available.