2020
DOI: 10.3389/fimmu.2020.00455
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Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

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Cited by 20 publications
(9 citation statements)
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“…Clinical immunologists in the region are still struggling with the standardization and expansion of newborn screening programs for CIDs and antibody deficiency. In addition, pre-symptomatic diagnosis of patients with other IEIs that carry a high rate of morbidity and mortality, including phagocytic and complement deficiency, should also move forward in MENA countries [ 29 ]. Increasing awareness about IEI and improved diagnostic capabilities of IEI will result in increased referrals for HSCT.…”
Section: Discussionmentioning
confidence: 99%
“…Clinical immunologists in the region are still struggling with the standardization and expansion of newborn screening programs for CIDs and antibody deficiency. In addition, pre-symptomatic diagnosis of patients with other IEIs that carry a high rate of morbidity and mortality, including phagocytic and complement deficiency, should also move forward in MENA countries [ 29 ]. Increasing awareness about IEI and improved diagnostic capabilities of IEI will result in increased referrals for HSCT.…”
Section: Discussionmentioning
confidence: 99%
“…6 Our group and others have investigated methods by which to expand current screening capabilities to detect a greater number of distinct forms of IEI, using Guthrie card analyses. 6 These proof-of-concept studies have included identification of granulocyte and complement disorders using protein-based methods, [24][25][26] and screening for familial hemophagocytic lymphohistiocytosis (HLH) due to UNC13D inversion mutations using genetic copy number variant analysis. 27 Given the significant genetic and phenotypic heterogeneity of IEI, screening for each of these diseases would require different testing modalities, and this is not practical from a logistic or economic perspective in the context of a newborn screening program.…”
Section: Whole-exome Sequencingmentioning
confidence: 99%
“…As complement is a cascade of multiple pathways and multiple components, the value of being able to test across the pathways is clear ( 84 ). An example of the potential value of this type of approach is presented in the work of Lennart Hammarström of the Karolinska Institute that has pioneered using dried blood spot samples in conjunction with multiplex immunoassays to detect primary complement deficiencies ( 85 ). Taking another approach, the group led by Marien I. de Jonge has demonstrated success using mass spectrometry to profile the complement system ( 84 ).…”
Section: Complement Testing Addressed In the Standardization Effortsmentioning
confidence: 99%