A Case Report of Folliculin-Interacting Protein 1 Deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01559-8.pdf
Reference5 articles.
1. 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.
2. 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.
3. 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.
4. 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.
5. 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.
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