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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Primary Immune Deficiency Diseases

Last data update: Mar 20, 2023. (Total: 58791 Documents since 2012)
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Query Trace: all[original query]>>Evidence Synthesis [Product Type]
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
Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
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)
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
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
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)
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
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
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
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
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
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
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
Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb
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)
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
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)
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
Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State.
Ding Yao et al. The Journal of pediatrics 2016 Feb
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
van der Spek Jet et al. Journal of clinical immunology 2015 May 35(4) 416-30
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