Related references
Note: Only part of the references are listed.Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects
Atar Lev et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2021)
SCID newborn screening: What we've learned
Robert Currier et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2021)
Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts
Jaime E. Hale et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2021)
Implementation of SCID Screening in Denmark
Marie Baekvad-Hansen et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)
First Year of TREC-Based National SCID Screening in Sweden
Christina Gongrich et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)
PSMB10, the last immunoproteasome gene missing for PRAAS
Guillaume Sarrabay et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)
Retrospective Analysis of a New York Newborn Screen Severe Combined Immunodeficiency Referral Center
Melissa D. Gans et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2020)
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
Stuart G. Tangye et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2020)
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
Janne Strand et al.
FRONTIERS IN IMMUNOLOGY (2020)
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration
Maria Gizewska et al.
FRONTIERS IN IMMUNOLOGY (2020)
Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices
Vijaya Knight et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations
Truck Johannes et al.
SWISS MEDICAL WEEKLY (2020)
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017
George S. Amatuni et al.
PEDIATRICS (2019)
Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation
Atar Lev et al.
FRONTIERS IN IMMUNOLOGY (2019)
Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening
Meera Patrawala et al.
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY (2019)
First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)
Ana Argudo-Ramirez et al.
FRONTIERS IN IMMUNOLOGY (2019)
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia
Jennifer M. Puck
IMMUNOLOGICAL REVIEWS (2019)
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience
Amarilla B. Mandola et al.
FRONTIERS IN IMMUNOLOGY (2019)
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
Aziz Bousfiha et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2018)
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots
Hamoud Al-Mousa et al.
FRONTIERS IN IMMUNOLOGY (2018)
MHC II deficient infant identified by newborn screening program for SCID
Nufar Marcus et al.
IMMUNOLOGIC RESEARCH (2018)
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)
Marie A. P. Audrain et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2018)
Long term outcomes of severe combined immunodeficiency: therapy implications
Jennifer Heimall et al.
EXPERT REVIEW OF CLINICAL IMMUNOLOGY (2017)
Thymus transplantation for complete DiGeorge syndrome: European experience
E. Graham Davies et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights
Erez Rechavi et al.
FRONTIERS IN IMMUNOLOGY (2017)
Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study
Jennifer Heimall et al.
BLOOD (2017)
Idiopathic T cell lymphopenia identified in New York State Newborn Screening
Stephanie Albin-Leeds et al.
CLINICAL IMMUNOLOGY (2017)
Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome
Edwin Cuperus et al.
EUROPEAN JOURNAL OF DERMATOLOGY (2017)
Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville
Beatriz de Felipe et al.
PEDIATRIC ALLERGY AND IMMUNOLOGY (2016)
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review
Jet van der Spek et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2015)
Incidence of severe combined immunodeficiency through newborn screening in a Chinese population
Yin-Hsiu Chien et al.
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION (2015)
Severe combined immunodeficiencies and related disorders
Alain Fischer et al.
NATURE REVIEWS DISEASE PRIMERS (2015)
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)
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience
William T. Shearer et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2014)
The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome
Eva Fronkova et al.
PLOS ONE (2014)
A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program
Raz Somech et al.
RAMBAM MAIMONIDES MEDICAL JOURNAL (2014)
Thymic function in MHC class II-deficient patients
Atar Lev et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2013)
Challenges of Newborn Severe Combined Immunodeficiency Screening Among Premature Infants
Claire E. Ward et al.
PEDIATRICS (2013)
The Wisconsin approach to newborn screening for severe combined immunodeficiency
James Verbsky et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)
Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening
Lucinda Brown et al.
BLOOD (2011)
Early vs. delayed diagnosis of severe combined immunodeficiency: A family perspective survey
Alice Chan et al.
CLINICAL IMMUNOLOGY (2011)
T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders
Raz Somech
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY (2011)
Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes
Rebecca H. Buckley
IMMUNOLOGIC RESEARCH (2011)
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)
Kee Chan et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly
Ales Janda et al.
BLOOD (2010)
Molecular Assessment of Thymus Capabilities in the Evaluation of T-Cell Immunodeficiency
Ninette Amariglio et al.
PEDIATRIC RESEARCH (2010)
Long-term Clinical Outcome of Patients with Severe Combined Immunodeficiency Who Received Related Donor Bone Marrow Transplants without Pretransplant Chemotherapy or Post-transplant GVHD Prophylaxis
Mary Dell Railey et al.
JOURNAL OF PEDIATRICS (2009)
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution
RH Buckley
ANNUAL REVIEW OF IMMUNOLOGY (2004)