The case for newborn screening for severe combined immunodeficiency and related disorders
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Title
The case for newborn screening for severe combined immunodeficiency and related disorders
Authors
Keywords
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Journal
Annals of the New York Academy of Sciences
Volume 1246, Issue 1, Pages 108-117
Publisher
Wiley
Online
2012-01-05
DOI
10.1111/j.1749-6632.2011.06346.x
References
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Related references
Note: Only part of the references are listed.- Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening
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- Infections and immunodeficiency in Down syndrome
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- Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening
- (2011) Majed Dasouki et al. CLINICAL IMMUNOLOGY
- Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening
- (2011) Bradford L Therrell et al. GENETICS IN MEDICINE
- Gene therapy for primary adaptive immune deficiencies
- (2011) Alain Fischer et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
- (2011) Donna M. McDonald-McGinn et al. MEDICINE
- A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)
- (2011) Kee Chan et al. MOLECULAR GENETICS AND METABOLISM
- A Multiplex Immunoassay Using the Guthrie Specimen to Detect T-Cell Deficiencies Including Severe Combined Immunodeficiency Disease
- (2010) D. K. Janik et al. CLINICAL CHEMISTRY
- High-Throughput Multiplexed T-Cell-Receptor Excision Circle Quantitative PCR Assay with Internal Controls for Detection of Severe Combined Immunodeficiency in Population-Based Newborn Screening
- (2010) J. L. Gerstel-Thompson et al. CLINICAL CHEMISTRY
- Early vs. delayed diagnosis of severe combined immunodeficiency: A family perspective survey
- (2010) Alice Chan et al. CLINICAL IMMUNOLOGY
- Newborn screening for T-cell deficiency
- (2010) Nicole M Chase et al. Current Opinion in Allergy and Clinical Immunology
- Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes
- (2010) Rebecca H. Buckley IMMUNOLOGIC RESEARCH
- B-cell function in severe combined immunodeficiency after stem cell or gene therapy: A review
- (2010) Rebecca H. Buckley JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Identification of an infant with severe combined immunodeficiency by newborn screening
- (2010) Jaime E. Hale et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Vaccine-Acquired Rotavirus in Infants with Severe Combined Immunodeficiency
- (2010) Niraj C. Patel et al. NEW ENGLAND JOURNAL OF MEDICINE
- Newborn Screening for Treatable Genetic Conditions: Past, Present and Future
- (2010) Susan Hiraki et al. OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA
- Systematic Evidence Review of Newborn Screening and Treatment of Severe Combined Immunodeficiency
- (2010) E. A. Lipstein et al. PEDIATRICS
- From Developing Guidelines to Implementing Legislation: Actions of the US Advisory Committee on Heritable Disorders in Newborns and Children Toward Advancing and Improving Newborn Screening
- (2010) R. Rodney Howell et al. SEMINARS IN PERINATOLOGY
- How I treat ADA deficiency
- (2009) H. B. Gaspar et al. BLOOD
- From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of Primary Immunodeficiencies
- (2009) Fred Modell et al. IMMUNOLOGIC RESEARCH
- Statewide Newborn Screening for Severe T-Cell Lymphopenia
- (2009) John M. Routes JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Rotavirus vaccine induced diarrhea in a child with severe combined immune deficiency
- (2009) Rebecca L. Werther et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Development of a routine newborn screening protocol for severe combined immunodeficiency
- (2009) Mei W. Baker et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards
- (2009) Yoichi Morinishi et al. JOURNAL OF PEDIATRICS
- Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray
- (2008) Tonya Lebet et al. GENETICS IN MEDICINE
- Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: Current status and critical needs
- (2008) Linda M. Griffith et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
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