Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
[Application of whole exome sequencing for the inferential analysis of recessive genetic disease carrier status for couples with a child died of Primary immunodeficiency].
Zhang B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
Rapid Diagnosis of Hemophagocytic Lymphohistiocytosis Triggered by Disseminated BCG Infection in Infants With Severe Combined Immunodeficiency: Case Report.
Zou TT et al.
Open Forum Infectious Diseases, 2023
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK et al.
Bone Marrow Transplantation, 2023
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Assessment of the gene mosaicism burden in blood and its implications for immune disorders.
Solís-Moruno M et al.
Scientific Reports, 2021
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A et al.
Clinical and Experimental Immunology, 2020
Mutation Analysis of Three Infantile Cases of X-linked Severe Combined Immunodeficiency.
Yu C et al.
Clinical Laboratory, 2020
Intact B-Cell Signaling and Function With Host B-Cells 47 Years After Transplantation for X-SCID.
Deal C et al.
Frontiers in Immunology, 2020
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Mensa-Vilaró A et al.
The Journal of Allergy and Clinical Immunology, 2019
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J et al.
Frontiers in Immunology, 2019
Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.
Cirillo E et al.
Frontiers in Immunology, 2019
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.
Luk ADW et al.
Frontiers in Immunology, 2017
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.
Hacein-Bey-Abina S et al.
The New England Journal of Medicine, 2014
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
Alsina L et al.
The Journal of Allergy and Clinical Immunology, 2013
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
Kwan A et al.
The Journal of Allergy and Clinical Immunology, 2013
Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011).
Yao CM et al.
Journal of Clinical Immunology, 2013
[Mutation analysis and prenatal diagnosis of a Chinese family with X-linked severe combined immunodeficiency].
Wu QH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M et al.
Blood, 2011
Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain-deficient severe combined immunodeficiency.
Slatter MA et al.
The Journal of Allergy and Clinical Immunology, 2011
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.
Lebet T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008
Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins.
Randles LG et al.
The Journal of Biological Chemistry, 2006
X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.
Jo EK et al.
Journal of Korean Medical Science, 2004
Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.
Schumacher RF et al.
The Israel Medical Association Journal : Imaj, 2002
Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
Kumaki S et al.
Human Genetics, 2000
Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency.
Fugmann SD et al.
Human Genetics, 1998
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
Pepper AE et al.
American Journal of Human Genetics, 1995
Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0