Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

The clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation of severe clinical symptoms. Including PIDs in the nation-wide newborn screening programs will potentially improve...

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Detalles Bibliográficos
Autores: Dezfouli, Mahya, Bergstrom, Sofia, Skattum, Lillemor, Abolhassani, Hassan, Neiman, Maja, Torabi-Rahvar, Monireh, Franco Jarava, Clara, Martin-Nalda, Andrea, Ferrer Balaguer, Juana Maria, Slade, Charlotte A., Roos, Anja, Fernandez Pereira, Luis M., Lopez-Trascasa, Margarita, Gonzalez-Granado, Luis, I, Allende-Martinez, Luis M., Mizuno, Yumi, Yoshida, Yusuke, Friman, Vanda, Lundgren, Asa, Aghamohammadi, Asghar, Rezaei, Nima, Hernandez-Guerra, Manuel, von Dobeln, Ulrika, Truedsson, Lennart, Hara, Toshiro, Nonoyama, Shigeaki, Schwenk, Jochen M., Nilsson, Peter, Hammarstrom, Lennart
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:Docusalut
Idioma:inglés
OAI Identifier:oai:docusalut.com:20.500.13003/11343
Acceso en línea:https://hdl.handle.net/20.500.13003/11343
Access Level:acceso abierto
Palabra clave:Early Diagnosis
Phagocytosis
Hereditary Complement Deficiency Diseases
Immunologic Deficiency Syndromes
Infant, Newborn
Retrospective Studies
Phagocyte Bactericidal Dysfunction
Phagocytes
Humans
Neonatal Screening
Tamizaje Neonatal
Enfermedades por Deficiencia de Complemento Hereditario
Humanos
Fagocitosis
Recién Nacido
Fagocitos
Disfunción de Fagocito Bactericida
Estudios Retrospectivos
Diagnóstico Precoz
Síndromes de Inmunodeficiencia
primary immunodeficiency
complement deficiencies
phagocytic disorders
presymptomatic diagnosis
newborn screening
dried blood spot
protein profiling
Descripción
Sumario:The clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation of severe clinical symptoms. Including PIDs in the nation-wide newborn screening programs will potentially improve survival and provide better disease management and preventive care in PID patients. This calls for the detection of disease biomarkers in blood and the use of dried blood spot samples, which is a part of routine newborn screening programs worldwide. Here, we developed a newborn screening method based on multiplex protein profiling for parallel diagnosis of 22 innate immunodeficiencies affecting the complement system and respiratory burst function in phagocytosis. The proposed method uses a small fraction of eluted blood from dried blood spots and is applicable for population-scale performance. The diagnosis method is validated through a retrospective screening of immunodeficient patient samples. This diagnostic approach can pave the way for an earlier, more comprehensive and accurate diagnosis of complement and phagocytic disorders, which ultimately lead to a healthy and active life for the PID patients.

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