TY - JOUR
T1 - Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies
AU - Dezfouli, Mahya
AU - Bergström, Sofia
AU - Skattum, Lillemor
AU - Abolhassani, Hassan
AU - Neiman, Maja
AU - Torabi-Rahvar, Monireh
AU - Franco Jarava, Clara
AU - Martin-Nalda, Andrea
AU - Ferrer Balaguer, Juana M.
AU - Slade, Charlotte A.
AU - Roos, Anja
AU - Fernandez Pereira, Luis M.
AU - López-Trascasa, Margarita
AU - Gonzalez-Granado, Luis I.
AU - Allende-Martinez, Luis M.
AU - Mizuno, Yumi
AU - Yoshida, Yusuke
AU - Friman, Vanda
AU - Lundgren, Åsa
AU - Aghamohammadi, Asghar
AU - Rezaei, Nima
AU - Hernández-Gonzalez, Manuel
AU - von Döbeln, Ulrika
AU - Truedsson, Lennart
AU - Hara, Toshiro
AU - Nonoyama, Shigeaki
AU - Schwenk, Jochen M.
AU - Nilsson, Peter
AU - Hammarström, Lennart
PY - 2020/3/17
Y1 - 2020/3/17
N2 - 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.
AB - 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.
KW - complement deficiencies
KW - dried blood spot
KW - newborn screening
KW - phagocytic disorders
KW - presymptomatic diagnosis
KW - primary immunodeficiency
KW - protein profiling
UR - http://www.scopus.com/inward/record.url?scp=85082659138&partnerID=8YFLogxK
U2 - 10.3389/fimmu.2020.00455
DO - 10.3389/fimmu.2020.00455
M3 - Article
C2 - 32256498
AN - SCOPUS:85082659138
SN - 1664-3224
VL - 11
JO - Frontiers in Immunology
JF - Frontiers in Immunology
M1 - 455
ER -