Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies
Dezfouli, Mahya (Kungl. Tekniska högskolan (Suècia))
Bergström, Sofia (Kungl. Tekniska högskolan (Suècia))
Skattum, Lillemor (Clinical Immunology and Transfusion Medicine, Region Skåne (Suècia))
Abolhassani, Hassan (Tehran University of Medical Sciences)
Neiman, Maja (Kungl. Tekniska högskolan (Suècia))
Torabi-Rahvar, Monireh (Tehran University of Medical Sciences)
Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Ferrer Balaguer, Juana M. (Hospital Universitari Son Espases (Palma de Mallorca, Balears))
Slade, Charlotte A. (The Walter and Eliza Hall Institute of Medical Research)
Roos, Anja (Sint Antonius Hospital)
López-Trascasa, Margarita (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Gonzalez-Granado, Luis I. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12))
Allende-Martinez, Luis M. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12))
Mizuno, Yumi (Fukuoka Children's Hospital)
Yoshida, Yusuke (Department of Pediatrics, National Defense Medical College (Japó))
Friman, Vanda (Department of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg)
Lundgren, Åsa (Central Hospital (Suècia))
Aghamohammadi, Asghar (Tehran University of Medical Sciences)
Rezaei, Nima (Tehran University of Medical Sciences)
Hernández-Gonzalez, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca)
von Döbeln, Ulrika (Karolinska University Hospital and Karolinska Institutet (Suècia))
Truedsson, Lennart (Lund University)
Hara, Toshiro (Fukuoka Children's Hospital)
Nonoyama, Shigeaki (National Defense Medical College (Japó))
Schwenk, Jochen M. (Kungl. Tekniska högskolan (Suècia))
Nilsson, Peter (Kungl. Tekniska högskolan (Suècia))
Hammarström, Lennart (Karolinska University Hospital and Karolinska Institutet (Suècia))
Universitat Autònoma de Barcelona

Date:	2020
Abstract:	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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Primary immunodeficiency ; Complement deficiencies ; Phagocytic disorders ; Presymptomatic diagnosis ; Newborn screening ; Dried blood spot ; Protein profiling
Published in:	Frontiers in immunology, Vol. 11 (march 2020) , ISSN 1664-3224

DOI: 10.3389/fimmu.2020.00455
PMID: 32256498

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