Browsing by Author "Bezrodnik, Liliana"
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Item Coronavirus disease 2019 in patients with inborn errors of immunity: An international study(2022) Meyts, Isabelle; Bucciol, Giorgia; Quinti, Isabella; Neven, Bénédicte; Fischer, Alain; Seoane, Elena; Lopez-Granados, Eduardo; Gianelli, Carla; Robles-Marhuenda, Angel; Jeandel, Pierre-Yves; Paillard, Catherine; Sankaran, Vijay G.; Demirdag, Yesim Yilmaz; Lougaris, Vassilios; Aiuti, Alessandro; Plebani, Alessandro; Milito, Cinzia; Dalm, Virgil Ash; Guevara-Hoyer, Kissy; Sánchez-Ramón, Silvia; Bezrodnik, Liliana; Barzaghi, Federica; González-Granado, Luis Ignacio; Hayman, Grant R.; Uzel, Gulbu; Mendonça, Leonardo Oliveira; Agostini, Carlo; Spadaro, Giuseppe; Badolato, Raffaele; Soresina, Annarosa; Vermeulen, Francois; Bosteels, Cedric; Lambrecht, Bart N.; Keller, Michael; Mustillo, Peter J.; Abraham, Roshini S.; Gupta, Sudhir; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, Safa; Freeman, Alexandra F.; Yamazaki-Nakashimada, Marco; Scheffler-Mendoza, Selma; Espinoza Padilla, Sara; Gennery, Andrew R.; Jolles, Stephen; Espinosa, Yazmin; Poli, Cecilia; Fieschi, Claire; Hauck, Fabian; Cunningham-Rundles, Charlotte; Mahlaouie, Nizar; Sullivan, Kathleen E.; Tangye, Stuart G.; IUIS Committee of Inborn Errors of Immunity;Background: There is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense. Objective: We sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2. Methods: An invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI. Results: We gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died. Conclusions: This study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.Item Latin American consensus on the supportive management of patients with severe combined immunodeficiency(2019) Bustamante Ogando, Juan Carlos; Partida Gaytán, Armando; Aldave Becerra, Juan Carlos; Álvarez Cardona, Aristóteles; Bezrodnik, Liliana; Borzutzky, Arturo; Blancas Galicia, Lizbeth; Cabanillas, Diana; Condino-Neto, Antonio; Colsa Ranero, Agustín De; Espinosa Padilla, Sara; Folloni Fernandes, Juliana; García Campos, Jorge Alberto; Gómez Tello, Héctor; González Serrano, María Edith; Gutiérrez Hernández, Alonso; Hernández Bautista, Víctor Manuel; Ivankovich Escoto, Gabriele; King, Alejandra; Lessa Mazzucchelli, Juliana; Llamas Guillén, Beatriz Adriana; Lugo Reyes, Saul Oswaldo; Moreno Espinosa, Sarbelio; Oleastro, Matías; Otero Mendoza, Francisco; Poli, Cecilia; Porras, Oscar; Ramirez Uribe, Nideshda; Regairaz, Lorean; Rivas Larrauri, Francisco; Saracho Weber, Federico José; Grumach, Anete S.; Staines Boone, Tamara; Tavares Costa-Carvalho, Beatriz; Yamazaki Nakashimada, Marco Antonio; Espinosa Rosales, Francisco JavierSevere combined immunodeficiency (SCID) represents the most lethal form of primary immunodeficiency, with mortality rates of greater than 90% within the first year of life without treatment. Hematopoietic stem cell transplantation and gene therapy are the only curative treatments available, and the best-known prognostic factors for success are age at diagnosis, age at hematopoietic stem cell transplantation, and the comorbidities that develop in between. There are no evidence-based guidelines for standardized clinical care for patients with SCID during the time between diagnosis and definitive treatment, and we aim to generate a consensus management strategy on the supportive care of patients with SCID. First, we gathered available information about SCID diagnostic and therapeutic guidelines, then we developed a document including diagnostic and therapeutic interventions, and finally we submitted the interventions for expert consensus through a modified Delphi technique. Interventions are grouped in 10 topic domains, including 123 “agreed” and 38 “nonagreed” statements. This document intends to standardize supportive clinical care of patients with SCID from diagnosis to definitive treatment, reduce disease burden, and ultimately improve prognosis, particularly in countries where newborn screening for SCID is not universally available and delayed diagnosis is the rule. Our work intends to provide a tool not only for immunologists but also for primary care physicians and other specialists involved in the care of patients with SCID.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.