A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy

Bucciol G, Delafontaine S, Meyts I, Poli C (2024) Inborn errors of immunity: a field without frontiers. Immunol Rev 322(1):15–27. https://doi.org/10.1111/imr.13297

Article  CAS  PubMed  Google Scholar 

Deenick EK, Lau A, Bier J, Kane A (2020) Molecular and cellular mechanisms underlying defective antibody responses. Immunol Cell Biol 98(6):467–479. https://doi.org/10.1111/imcb.12345

Article  CAS  PubMed  Google Scholar 

Fischer A, Provot J, Jais J-P, Alcais A, Mahlaoui N, Adoue D, Aladjidi N, Amoura Z, Arlet P, Armari-Alla C, Bader-Meunier B, Barlogis V, Bayart S, Beaurain B, Bertrand Y, Bienvenu B, Blanche S, Bodet D, Bonnotte B, Viallard J-F (2017) Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. J Allergy Clin Immunol 140(5):1388-1393.e8. https://doi.org/10.1016/j.jaci.2016.12.978

Article  CAS  PubMed  Google Scholar 

Kwon SS, Cho YK, Hahn S, Oh J, Won D, Shin S, Kang J-M, Ahn JG, Lee S-T, Choi JR (2023) Genetic diagnosis of inborn errors of immunity using clinical exome sequencing. Front Immunol 14:1178582. https://doi.org/10.3389/fimmu.2023.1178582

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lev A, Simon AJ, Bareket M, Bielorai B, Hutt D, Amariglio N, Rechavi G, Somech R (2012) The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients. PLoS ONE 7(1):e30494. https://doi.org/10.1371/journal.pone.0030494

Article  CAS  PubMed  PubMed Central  Google Scholar 

McCusker C, Upton J, Warrington R (2018) Primary immunodeficiency. Allergy Asthma Clin Immunol 14(S2):61. https://doi.org/10.1186/s13223-018-0290-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moreno-Corona N, Valagussa A, Thouenon R, Fischer A, Kracker S (2023) A case report of folliculin-interacting protein 1 deficiency. J Clin Immunol 43(8):1751–1753. https://doi.org/10.1007/s10875-023-01559-8

Article  PubMed  Google Scholar 

Niehues T, Özgür TT, Bickes M, Waldmann R, Schöning J, Bräsen J, Hagel C, Ballmaier M, Klusmann J, Niedermayer A, Pannicke U, Enders A, Dückers G, Siepermann K, Hempel J, Schwarz K, Viemann D (2020) Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. Eur J Immunol 50(7):1078–1080. https://doi.org/10.1002/eji.201948504

Article  CAS  PubMed  Google Scholar 

Notarangelo LD, Bacchetta R, Casanova J-L, Su HC (2020) Human inborn errors of immunity: an expanding universe. Sci Immunol 5(49):eabb1662. https://doi.org/10.1126/sciimmunol.abb1662

Article  CAS  PubMed  PubMed Central  Google Scholar 

Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS (2008) Common variable immunodeficiency: a new look at an old disease. The Lancet 372(9637):489–502. https://doi.org/10.1016/S0140-6736(08)61199-X

Article  Google Scholar 

Rae W, Ward D, Mattocks C, Pengelly RJ, Eren E, Patel SV, Faust SN, Hunt D, Williams AP (2018) Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. Clin Genet 93(3):647–655. https://doi.org/10.1111/cge.13163

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, BarroetaSeijas A, Rivers E, Mauri M, Badolato R, Biondi A (2021) Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood 137(4):493–499. https://doi.org/10.1182/blood.2020006441

Article  CAS  PubMed  PubMed Central  Google Scholar 

Seleman M, Hoyos-Bachiloglu R, Geha RS, Chou J (2017) Uses of next-generation sequencing technologies for the diagnosis of primary immunodeficiencies. Front Immunol 8:847. https://doi.org/10.3389/fimmu.2017.00847

Article  CAS  PubMed  PubMed Central  Google Scholar 

Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, Crawford G, Anzilotti C, Steeples V, Ghaffari S, Czibik G, Bellahcene M, Watkins H, Ashrafian H, Davies B, Woods A, Carling D, Yavari A, Beutler B, Cornall RJ (2016) Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. Proceed Nat Acad Sci 113(26). https://doi.org/10.1073/pnas.1607592113

Simon AJ, Golan AC, Lev A, Stauber T, Barel O, Somekh I, Klein C, AbuZaitun O, Eyal E, Kol N, Unal E, Amariglio N, Rechavi G, Somech R (2020) Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community. Clin Immunol 214:108376. https://doi.org/10.1016/j.clim.2020.108376

Article  CAS  PubMed  Google Scholar 

Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Boztug K (2019) CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. Blood 134(18):1510–1516. https://doi.org/10.1182/blood.2019000644

Article  CAS  PubMed  PubMed Central  Google Scholar 

Somekh I, Lev A, Barel O, Lee YN, Hendel A, Simon AJ, Somech R (2021) Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy. Immunol Res 69(2):145–152. https://doi.org/10.1007/s12026-021-09179-3

Article  CAS  PubMed  Google Scholar 

Somekh I, Hendel A, Somech R (2024) Evolution of gene therapy for inborn errors of immunity. JAMA Pediatr 178(7):645. https://doi.org/10.1001/jamapediatrics.2024.1116

Article  PubMed  Google Scholar 

Spivak I, Frizinsky S, Mandola A, Lev A, Simon AJ, Barel O, Vishnevskia-Dai V, Somech R, Somekh I (2024) Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity. Clin Experimental Immunol uxae083. https://doi.org/10.1093/cei/uxae083

Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I (2022) Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 42(7):1473–1507. https://doi.org/10.1007/s10875-022-01289-3

Article  PubMed  PubMed Central  Google Scholar 

Yazdani R, Habibi S, Sharifi L, Azizi G, Abolhassani H, Olbrich P, Aghamohammadi A (2020) Common variable immunodeficiency: epidemiology, pathogenesis, clinical manifestations, diagnosis, classification, and management. J Investig Allergol Clin Immunol 30(1):14–34. https://doi.org/10.18176/jiaci.0388

Article  CAS  PubMed  Google Scholar 

Yu JE (2024) New primary immunodeficiencies 2023 update. Curr Opin Pediatr 36(1):112–123. https://doi.org/10.1097/MOP.0000000000001315

Article  PubMed  Google Scholar 

留言 (0)

沒有登入
gif