Associated Papers
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
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
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
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
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