Article
Latin American consensus on the supportive management of patients with severe combined immunodeficiency
Fecha
2019Registro en:
Autor
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 Javier
Institución
Resumen
Severe 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.