Associated Papers
Lymphedema in patients with X-linked severe combined immunodeficiency.
Consonni F et al.
The Journal of Allergy and Clinical Immunology. Global, 2026
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation.
NaserEddin A et al.
Journal of Clinical Immunology, 2021
Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Belaid B et al.
Frontiers in Immunology, 2021
Gene analysis of seven cases of primary immunodeficiency.
Zhu Y et al.
Translational Pediatrics, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J et al.
Frontiers in Immunology, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C 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
Acute Myeloid Leukemia in a Patient With X-linked Severe Combined Immunodeficiency.
Shigemura T et al.
Journal of Pediatric Hematology/oncology, 2017
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
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
Successful treatment for West syndrome with severe combined immunodeficiency.
Motobayashi M et al.
Brain & Development, 2015
[Clinical advance of atypical severe combined immunodeficiency].
Du H et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.
Hacein-Bey-Abina S et al.
The New England Journal of Medicine, 2014
Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China.
Zhang C et al.
World Journal of Pediatrics : Wjp, 2013
[A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient].
Zhang ZY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
The role of common gamma chain in human monocytes in vivo; evaluation from the studies of X-linked severe combined immunodeficiency (X-SCID) carriers and X-SCID patients who underwent cord blood stem cell transplantation.
Ariga T et al.
British Journal of Haematology, 2002
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