Person: Poli Harlowe, María Cecilia
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Poli Harlowe
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María Cecilia
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María Cecilia Poli Harlowe
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Publication The Latin American Society for Immunodeficiencies Registry(2024) Seminario, Gisela; Gonzalez, Maria; Sanchez, Carolina; Sevciovic, Anete; Rodrigues, Gesmar; Regairaz, Lorena; Alvares, Aristoteles; LASID Registry Group; Aldave, Juan; Poli Harlowe, María Cecilia; King, Alejandra; Rodrigues, Fatima; Leiva, Lily; Franco, Jose; Espinosa, Francisco; Sorensen, Ricardo; Tavares, Beatriz; Bezrodnik, Liliana; Condino, AntonioPurpose - The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inborn Errors of Immunity (IEI) patients in the region. Although several reports have been published regarding LASID data, this is the first report of the entire dataset. Methods - The European Society of Immunodeficiencies (ESID) donated the online platform in 2008. Data was collected from participating centers from Apr 13, 2009, to Dec 31, 2022, and included demographic, clinical, and follow-up information. Results - A total of 9307 patients were included in the database. At the end of the study period, 8,805 patients were alive or lost to follow-up, and 502 were deceased. The most common type of IEI was predominantly antibody deficiency (PAD, 60.35%), and selective IgA deficiency was the most frequent diagnosis (1627 patients, 17.48%), followed by Common Variable Immune Deficiency (CVID, 1191 patients). Most patients (78.16%) were ≤ 18 years old at inclusion, and the median age at diagnosis was 4.77 years. The median time to diagnosis was 5.04 years. Antibiotics were prescribed in 32.3% of visits, followed by immunoglobulins (29.49% ). Hematopoietic stem cell transplantation was performed in 5.03% of patients. Omenn syndrome was the most common disease in deceased patients, with a mortality rate of 52.63%. Conclusion - This study contributes to our understanding of IEIs in Latin America and highlights the importance of early diagnosis, appropriate treatments, and improved data collection to optimize patient outcome.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.