Browsing by Author "Booth, Claire"
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Item Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency(2020) Saettini, Francesco; Poli, Cecilia; Vengoechea, Jaime; Bonanomi, Sonia; Orellana, Julio C.; Fazio, Grazia; Rodriguez, Fred H.; Noguera, Loreani; Booth, Claire; Jarur-Chamy, Valentina; Shams, Marissa; Iascone, María; Vukic, Maja; Gasperini, Serena; Quadri, Manuel; Barroeta Seijas, Amairelys; Rivers, Elizabeth; Mauri, Mario; Badolato, Raffaele; Cazzaniga, Gianni; Bugarin, Cristina; Gaipa, Giuseppe; Kroes, Wilma G. M.; Moratto, Daniele; Oostaijen-Ten Dam, Monique M. van; Baas, Frank; Maarel, Silvère van der; Piazza, Rocco; Coban-Akdemir, Zeynep H.; Lupski, James R.; Yuan, Boi; Daxinger, Lucia; Biondi, Andrea; Chinn, Ivan K.Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated three novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound heterozygous variants in the gene for Folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and PI3K/AKT pathway, was impaired. These defects recapitulated the Fnip1 -/- animal model. Moreover, we identified either uniparental disomy or copy number variants [CNV] in two patients, expanding the variant spectrum of this novel inborn error of immunity. The results indicate that FNIP1 deficiency can be caused by complex genetic mechanisms and support the clinical utility of exome sequencing and CNV analysis in patients with broad phenotypes, including agammaglobulinemia and HCM. FNIP1 deficiency is a novel inborn error of immunity characterized by early and severe B-cell development defect, agammaglobulinemia, variable neutropenia, and HCM. Our findings elucidate a functional and relevant role of FNIP1 in B-cell development and metabolism and potentially neutrophil activity.Publication Multiomics dissection of human RAG deficiency revealsdistinctive patterns of immune dysregulation but acommon inflammatory signature(2025) Bosticardo, Marita; Dobbs, Kerry; Delmonte, Ottavia; Martins, Andrew; Pala, Francesca; Kawai, Tomoki; Kenney, Heather; Magro, Gloria; Rosen, Lindsey; Yamazaki, Yasuhiro; Yu, Hsin-Hui; Calzoni, Enrica; Lee, Yu Nee; Liu, Can; Stoddard, Jennifer; Niemela, Julie; Fink, Danielle; Castagnoli, Riccardo; Ramba, Meredith; Cheng, Aristine; Riley, Deanna; Oikonomou, Vasileios; Shaw, Elana; Belaid, Brahim; Keles, Sevgi; Al- Herz, Waleed; Cancrin, Caterina; Cifald, Cristina; Baris, Safa; Sharapova, Svetlana; Schuetz, Catharina; Gennery, Andrew; Freeman, Alexandra; Somech, Raz; Choo, Sharon; Giliani, Silvia; Güngör, Tayfun; Drozdov, Daniel; Meyt, Isabelle; Moshous, Despina; Neven, Benedicte; Abraham, Roshini; El- Marsafy, Aisha; Kanariou, Maria; King, Alejandra; Licciardi, Francesco; Cruz, Mario; Palma, Paolo; Poli Harlowe, María Cecilia; Adelo, Mehdi; Algeri, Mattia; Alroqi, Fayhan; Bastard, Paul; Bergerson, Jenna; Booth, Claire; Brett, Ana; Burns, Siobhan; Butt, Manish; Padem, Nurcicek; de la Morena, M. TeresaCompeting interests: M.J.B. is a speaker for Grifols; consults for Pharming, Horizon/Amgen, and Grifols; receives sponsored research funding from the NIH, the Bill and Melinda Gates Foundation, and Pharming; and serves on the scientific advisory board for ADMA Biologics. H.C.S. has stock holdings in Amgen and Eli Lily. R.S.A. receives royalties from Elsevier for book publications, serves as deputy editor for the Journal of Immunology, is Committee Chair of Newborn Screening for SCID for the Clinical and Laboratory Standards Institute, and is a member of the Immunology Clinical Domain Working Group for ClinGen. B.J.D.S. is an ad hoc consultant for Sobi and a member of the Data Safety Monitoring Board for Orchard Therapeutics. I.M. is a senior Clinical Researcher at the FWO Flanders. R.L.F. has consulted for Takeda, Griffons, Horizon, and Pharming. B.W. serves as consultant for the Immunology Speakers Bureau, Takeda Pharmaceutocals. S. Prockop receives support for the conduct of clinical trials through Boston Children’s Hospital from AlloVir, Atara, and Jasper. She is an inventor of intellectual property related to development of third-party virus-specific T cells program with all rights assigned to Memorial Sloan Kettering Cancer Center; receives honoraria from Pierre Fabre, Regeneron; serves on the data safety monitoring board at Stanford University and New York Blood Center; and is consulting for Atara, Ensoma, Pierre Fabre, HEOR and VOR. J.S.T. serves on the scientific advisory board of CytoReason Inc. and Immunoscape Inc. and as the co–chief science officer (unpaid) of the Human Immunome Project (nonprofit). All other authors declare that they have no competing interests.