4.5 Article

Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel

Related references

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

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

Atar Lev et al.

Summary: This study identified a novel biallelic mutations in SLP76 gene in an infant with severe immunodeficiency, which resulted in early-onset life-threatening infections and various immunodeficiency effects. By simulating the patient's immune phenotype and intervention research, the study demonstrated the important role of SLP76 in the human immune system.

JOURNAL OF EXPERIMENTAL MEDICINE (2021)

Review Allergy

SCID newborn screening: What we've learned

Robert Currier et al.

Summary: Newborn screening for severe combined immunodeficiency, the first immune disorder accepted for population-based screening, has proven to be an effective measure in improving outcomes by helping patients avoid devastating infections and receive prompt treatment. The T-cell receptor excision circle test has been widely adopted in the United States, providing important lessons for public health programs and medical professionals.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2021)

Article Allergy

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts

Jaime E. Hale et al.

Summary: Massachusetts implemented newborn screening for SCID using TRECs measurements, finding SCID/leaky SCID cases among newborns. The study supports a single NBS testing-and referral algorithm for all gestational ages and shows that low naive T-cell percentage is associated with a higher risk of SCID/CID.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2021)

Article Genetics & Heredity

Implementation of SCID Screening in Denmark

Marie Baekvad-Hansen et al.

Summary: Screening for SCID was added to the Danish Neonatal Screening Program in February 2020, using a RealtimePCR kit. The results and experiences with the validation of the kit and the first 10 months of screening are presented here.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

Article Genetics & Heredity

First Year of TREC-Based National SCID Screening in Sweden

Christina Gongrich et al.

Summary: The screening for severe combined immunodeficiency (SCID) in Swedish newborns showed high sensitivity and specificity in detecting SCID and T cell lymphopenia in the first year, with an estimated incidence of SCID in the Swedish population being 1 in 38,500 newborns.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

Article Allergy

PSMB10, the last immunoproteasome gene missing for PRAAS

Guillaume Sarrabay et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)

Article Immunology

Retrospective Analysis of a New York Newborn Screen Severe Combined Immunodeficiency Referral Center

Melissa D. Gans et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

Review Allergy

Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening

Meera Patrawala et al.

CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY (2019)

Review Immunology

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia

Jennifer M. Puck

IMMUNOLOGICAL REVIEWS (2019)

Article Immunology

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience

Amarilla B. Mandola et al.

FRONTIERS IN IMMUNOLOGY (2019)

Article Immunology

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Aziz Bousfiha et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2018)

Article Immunology

MHC II deficient infant identified by newborn screening program for SCID

Nufar Marcus et al.

IMMUNOLOGIC RESEARCH (2018)

Review Immunology

Long term outcomes of severe combined immunodeficiency: therapy implications

Jennifer Heimall et al.

EXPERT REVIEW OF CLINICAL IMMUNOLOGY (2017)

Article Allergy

Thymus transplantation for complete DiGeorge syndrome: European experience

E. Graham Davies et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)

Article Immunology

Idiopathic T cell lymphopenia identified in New York State Newborn Screening

Stephanie Albin-Leeds et al.

CLINICAL IMMUNOLOGY (2017)

Article Allergy

Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville

Beatriz de Felipe et al.

PEDIATRIC ALLERGY AND IMMUNOLOGY (2016)

Article Immunology

TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review

Jet van der Spek et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2015)

Article Medicine, General & Internal

Incidence of severe combined immunodeficiency through newborn screening in a Chinese population

Yin-Hsiu Chien et al.

JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION (2015)

Article Medicine, General & Internal

Severe combined immunodeficiencies and related disorders

Alain Fischer et al.

NATURE REVIEWS DISEASE PRIMERS (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 Multidisciplinary Sciences

The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

Eva Fronkova et al.

PLOS ONE (2014)

Article Medicine, General & Internal

A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program

Raz Somech et al.

RAMBAM MAIMONIDES MEDICAL JOURNAL (2014)

Article Allergy

Thymic function in MHC class II-deficient patients

Atar Lev et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2013)

Article Allergy

The Wisconsin approach to newborn screening for severe combined immunodeficiency

James Verbsky et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)

Review Allergy

T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders

Raz Somech

CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY (2011)

Article Endocrinology & Metabolism

A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)

Kee Chan et al.

MOLECULAR GENETICS AND METABOLISM (2011)