4.7 Review

SCID newborn screening: What we've learned

Related references

Note: Only part of the references are listed.
Article Pediatrics

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective

M. H. D. Schoenaker et al.

EUROPEAN JOURNAL OF PEDIATRICS (2020)

Review Immunology

Gene therapy for severe combined immunodeficiencies and beyond

Alain Fischer et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2020)

Editorial Material Allergy

Gene therapy for X-linked severe combined immunodeficiency: Historical outcomes and current status

Sung-Yun Pai et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)

Article Biochemistry & Molecular Biology

The role of exome sequencing in newborn screening for inborn errors of metabolism

Aashish N. Adhikari et al.

NATURE MEDICINE (2020)

Review Clinical Neurology

Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care

David C. Schorling et al.

JOURNAL OF NEUROMUSCULAR DISEASES (2020)

Article Allergy

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

Christopher C. Dvorak et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2019)

Article Hematology

Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency

Christopher C. Dvorak et al.

BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2019)

Article Hematology

A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency

Motoi Yamashita et al.

INTERNATIONAL JOURNAL OF HEMATOLOGY (2019)

Article Medicine, General & Internal

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1

Ewelina Mamcarz et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

Article Allergy

Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects

George S. Amatuni et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2019)

Article Pediatrics

T-Cell Receptor Excision Circles in Newborns with Congenital Heart Disease

Brooke T. Davey et al.

JOURNAL OF PEDIATRICS (2019)

Article Medicine, Research & Experimental

FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans

Qiumei Du et al.

JOURNAL OF CLINICAL INVESTIGATION (2019)

Article Immunology

Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran

Maryam Nourizadeh et al.

SCANDINAVIAN JOURNAL OF IMMUNOLOGY (2018)

Article Immunology

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency

Jessica C. Barry et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2017)

Article Immunology

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Stefano Volpi et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2017)

Letter Allergy

Profound T-cell lymphopenia associated with prenatal exposure to purine antagonists detected by TREC newborn screening

Caroline Y. Kuo et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2017)

Article Immunology

Idiopathic T cell lymphopenia identified in New York State Newborn Screening

Stephanie Albin-Leeds et al.

CLINICAL IMMUNOLOGY (2017)

Article Medicine, General & Internal

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B

Divya Punwani et al.

NEW ENGLAND JOURNAL OF MEDICINE (2016)

Review Obstetrics & Gynecology

History and current status of newborn screening for severe combined immunodeficiency

Antonia Ktuan et al.

SEMINARS IN PERINATOLOGY (2015)

Article Medicine, General & Internal

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Antonia Kwan et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Medicine, General & Internal

Transplantation Outcomes for Severe Combined Immunodeficiency, 2000-2009

Sung-Yun Pai et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Article Immunology

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia

Jacob Mallott et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2013)

Article Pediatrics

Immunologic Features of Cornelia de Lange Syndrome

Soma Jyonouchi et al.

PEDIATRICS (2013)

Review Allergy

The long quest for neonatal screening for severe combined immunodeficiency

Rebecca H. Buckley

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)

Article Genetics & Heredity

Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency

Krystyna H Chrzanowska et al.

CLINICAL GENETICS (2010)

Article Medicine, General & Internal

Vaccine-Acquired Rotavirus in Infants with Severe Combined Immunodeficiency

Niraj C. Patel et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Allergy

Development of population-based newborn screening for severe combined immunodeficiency

K Chan et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2005)