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oai:repisalud.isciii.es:20.500.12105/229152024-11-28T16:06:57Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16938col_20.500.12105_16963col_20.500.12105_16967col_20.500.12105_16987
Repisalud author Dezfouli, Mahya author Bergstrom, Sofia author Skattum, Lillemor author Abolhassani, Hassan author Neiman, Maja author Torabi-Rahvar, Monireh author Franco Jarava, Clara author Martin-Nalda, Andrea author Ferrer Balaguer, Juana Maria author Slade, Charlotte A author Roos, Anja author Fernandez Pereira, Luis M author Lopez-Trascasa, Margarita author Gonzalez-Granado, Luis, I author Allende-Martinez, Luis M author Mizuno, Yumi author Yoshida, Yusuke author Friman, Vanda author Lundgren, Asa author Aghamohammadi, Asghar author Rezaei, Nima author Hernandez-Guerra, Manuel author von Dobeln, Ulrika author Truedsson, Lennart author Hara, Toshiro author Nonoyama, Shigeaki author Schwenk, Jochen M author Nilsson, Peter author Hammarstrom, Lennart 2024-09-13T09:13:29Z 2024-09-13T09:13:29Z 2020-03-17 Dezfouli M, Bergstrom S, Skattum L, Abolhassani H, Neiman M, Torabi-Rahvar M, et al. Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies. Front Immunol. 2020 Mar 17;11:455. 10.3389/fimmu.2020.00455 1664-3224 Frontiers in Immunology http://hdl.handle.net/20.500.13003/11343 32256498 L631360593 2-s2.0-85082659138 https://hdl.handle.net/20.500.12105/22915 525552000001 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. eng Primary immunodeficiency Complement deficiencies Phagocytic disorders Presymptomatic diagnosis Newborn screening Dried blood spot Protein profiling Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies research article