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References
Niehues T, Özgür TT, Bickes M, Waldmann R, Schöning J, Bräsen J, et al. Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. Eur J Immunol. 2020;50(7):1078–80.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, et al. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021;137(4):493–9.
Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci. 2006;103(42):15552–7.
Hasumi H, Baba M, Hong SB, Hasumi Y, Huang Y, Yao M, et al. Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene. 2008;415(1–2):60–7.
Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, et al. The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development. Blood. 2012;120(6):8.
Acknowledgements
The authors would like to thank the patients and their families for contributing to the study. We thank the Necker Imagine Centre de Resources Biologiques for generating EBV-transformed lymphoblastoid cell lines; the bioinformatic platform from the Imagine Institute for their help in analyzing the whole exome sequencing data; the clinical research team at the Imagine Institute for their support; and the members of the human lymphohematopoiesis laboratory for helpful discussions.
Funding
The work was funded by the French state (via the Agence Nationale de la Recherche’s “Investissments d’avenir” program (ANR-10-IAHU-01), and grants ANR-19-CE17-0012-01 and ANR-19-CE17-0012-02 (ANR-AID)). SK is a Centre National de la Recherche Scientifique staff researcher.
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NMC, AV, and RT performed and analyzed experiments. AF provided patient care, clinical information, and samples from the patients and controls. SK supervised the research. SK and NMC wrote the manuscript, and all the co-authors revised, edited, and approved the manuscript.
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Genetic studies and data collection procedures were approved by the local institutional review board (Comité de Protection des Personnes Ile de France II, Paris, France; reference: 2015-01-05; 2015-01-05 MS2) and the French Advisory Committee on Data Processing in Medical Research (Comité Consultatif sur le Traitement de l’Information en matière de Recherche dans le domaine de la Santé, Paris, France; reference: 15.297bis).
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Moreno-Corona, N., Valagussa, A., Thouenon, R. et al. A Case Report of Folliculin-Interacting Protein 1 Deficiency. J Clin Immunol 43, 1751–1753 (2023). https://doi.org/10.1007/s10875-023-01559-8
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DOI: https://doi.org/10.1007/s10875-023-01559-8