Associated Papers
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCID.
Assing K et al.
Immunity, Inflammation and Disease, 2025
X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review.
Jiang C et al.
Frontiers in Immunology, 2024
A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers.
Rayzan E et al.
Journal of Medical Case Reports, 2023
Exhaustion‑like dysfunction of T and NKT cells in an X‑linked severe combined immunodeficiency patient with maternal engraftment by single‑cell analysis.
Dong W et al.
International Journal of Molecular Medicine, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Belaid B et al.
Frontiers in Immunology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P et al.
Frontiers in Immunology, 2020
Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene.
Ibusuki A et al.
The Journal of Dermatology, 2019
Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.
Mamcarz E et al.
The New England Journal of Medicine, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C 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
[Clinical advance of atypical severe combined immunodeficiency].
Du H et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China.
Zhang C et al.
World Journal of Pediatrics : Wjp, 2013
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M et al.
Blood, 2011
Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.
Lee PP et al.
Journal of Clinical Immunology, 2011
[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
Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations.
Shibata F et al.
European Journal of Haematology, 2007
Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.
Schumacher RF et al.
The Israel Medical Association Journal : Imaj, 2002
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
Notarangelo LD et al.
Immunological Reviews, 2000
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
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.
Puck JM et al.
Human Genetics, 1997
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