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 NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2021 4
2023 4
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
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: thouenon r. 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.
Human inborn errors of immunity associated with IRF4.
Thouenon R, Kracker S. Thouenon R, et al. Front Immunol. 2023 Sep 22;14:1236889. doi: 10.3389/fimmu.2023.1236889. eCollection 2023. Front Immunol. 2023. PMID: 37809068 Free PMC article. Review.
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. 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.
Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.
Thouenon R, Moreno-Corona N, Poggi L, Durandy A, Kracker S. Thouenon R, et al. Front Pediatr. 2021 Jun 25;9:652405. doi: 10.3389/fped.2021.652405. eCollection 2021. Front Pediatr. 2021. PMID: 34249806 Free PMC article. Review.
A Case Report of Folliculin-Interacting Protein 1 Deficiency.
Moreno-Corona N, Valagussa A, Thouenon R, Fischer A, Kracker S. Moreno-Corona N, et al. Among authors: thouenon r. J Clin Immunol. 2023 Nov;43(8):1751-1753. doi: 10.1007/s10875-023-01559-8. Epub 2023 Jul 31. J Clin Immunol. 2023. PMID: 37522988 No abstract available.
Intracellular Factor H Drives Tumor Progression Independently of the Complement Cascade.
Daugan MV, Revel M, Thouenon R, Dragon-Durey MA, Robe-Rybkine T, Torset C, Merle NS, Noé R, Verkarre V, Oudard SM, Mejean A, Validire P, Cathelineau X, Sanchez-Salas R, Pickering MC, Cremer I, Mansuet-Lupo A, Alifano M, Sautès-Fridman C, Damotte D, Fridman WH, Roumenina LT. Daugan MV, et al. Among authors: thouenon r. Cancer Immunol Res. 2021 Aug;9(8):909-925. doi: 10.1158/2326-6066.CIR-20-0787. Epub 2021 May 26. Cancer Immunol Res. 2021. PMID: 34039652
A combination of cyclophosphamide and interleukin-2 allows CD4+ T cells converted to Tregs to control scurfy syndrome.
Delville M, Bellier F, Leon J, Klifa R, Lizot S, Vinçon H, Sobrino S, Thouenon R, Marchal A, Garrigue A, Olivré J, Charbonnier S, Lagresle-Peyrou C, Amendola M, Schambach A, Gross D, Lamarthée B, Benoist C, Zuber J, André I, Cavazzana M, Six E. Delville M, et al. Among authors: thouenon r. Blood. 2021 Apr 29;137(17):2326-2336. doi: 10.1182/blood.2020009187. Blood. 2021. PMID: 33545713 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: thouenon r. Front Pediatr. 2021 Jun 24;9:688022. doi: 10.3389/fped.2021.688022. eCollection 2021. Front Pediatr. 2021. PMID: 34249818 Free PMC article.