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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Primary Immune Deficiency Diseases
Last data update: Apr 23, 2024
. (Total: 63653 Documents since 2012)
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all[original query]>>Evidence Synthesis [Product Type]
The differential diagnosis value of radiomics-based machine learning in Parkinson's disease: a systematic review and meta-analysis.
Jiaxiang Bian et al. Front Aging Neurosci 2023 151199826
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Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.
Gang Peng et al. Molecular genetics & genomic medicine 2023 e2181
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A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain.
Zozaya Néboa et al. Global & regional health technology assessment 2023 914-21
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Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
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Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
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Systematic Review of Safety and Efficacy of IL-1-Targeted Biologics in Treating Immune-Mediated Disorders.
Arnold Dennis D et al. Frontiers in immunology 2022 13888392
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Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
STF Shih et al, IJNS, July 20, 2022
A systematic review and meta-analysis of gene therapy with hematopoietic stem and progenitor cells for monogenic disorders.
Tucci Francesca et al. Nature communications 2022 13(1) 1315
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Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data.
van den Akker-van Marle M Elske et al. International journal of neonatal screening 2021 7(3)
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Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Cordero Elisa et al. Enfermedades infecciosas y microbiologia clinica 2020 Nov 38(9) 438-443
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A Cost-Effectiveness Analysis of Newborn Screening for Severe Combined Immunodeficiency in the UK.
Bessey Alice et al. International journal of neonatal screening 2019 Sep 5(3) 28
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Modeling Cost-Effectiveness of On-Demand Treatment for Hereditary Angioedema Attacks.
Bernstein Jonathan A et al. Journal of managed care & specialty pharmacy 2019 Dec 1-9
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Prevalence of Immunodeficiency in Children With Invasive Pneumococcal Disease in the Pneumococcal Vaccine Era: A Systematic Review.
Butters Coen et al. JAMA pediatrics 2019 Sep
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CLINGEN Actionability Report for Breast Cancer - ATM, CHEK2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Ehlers-Danlos Syndrome Type IV - COL3A1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Tumor Predisposition Syndrome - BAP1
ClinGen Actionability Working Group
CLINGEN Actionability Report for WAS-related disorders-WAS
ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial thoracic aortic aneurysms and dissections (FTAAD)- FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
ClinGen Actionability Working Group
CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10
ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial Mediterranean Fever (AR) - MEFV
ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial Mediterranean Fever (AD) - MEFV
ClinGen Actionability Working Group
CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ClinGen Actionability Working Group
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.
Yska Hemmo A F et al. Journal of clinical immunology 2019 Jun
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Cost-effectiveness of newborn screening for severe combined immunodeficiency.
Van der Ploeg Catharina P B et al. European journal of pediatrics 2019 May 178(5) 721-729
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Societal value of newborn screening for severe combined immune deficiency in Arkansas: An economic analysis.
Hays Laura H et al. Public health nursing (Boston, Mass.) 2019 Apr
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Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb
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The miRNA Mirage: How Close Are We to Finding a Non-Invasive Diagnostic Biomarker in Endometriosis? A Systematic Review.
Agrawal Swati et al. International journal of molecular sciences 2018 Feb 19(2)
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Atypical Hemolytic Uremic Syndrome: A Meta-Analysis of Case Reports Confirms the Prevalence of Genetic Mutations and the Shift of Treatment Regimens.
Krishnappa Vinod et al. Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy 2017 Dec
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Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1).
Stieber Christiane et al. European journal of human genetics : EJHG 2017 Oct 25(10)
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Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
van Os N J H et al. Clinical genetics 2016 Aug 90(2) 105-17
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 23, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
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