A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T−NK−B+)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Immunology
Link
http://link.springer.com/content/pdf/10.1007/s00251-015-0871-0.pdf
Reference35 articles.
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2. Buckley RH (2002) Gene therapy for SCID—a complication after remarkable progress. Lancet 360:1185–1186
3. Buckley RH (2004) Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 22:625–655
4. Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM (1997) Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 130:378–387
5. Candotti F, O’Shea JJ, Villa A (1998) Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway. Springer Semin Immunopathol 19:401–415
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1. A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome;Frontiers in Genetics;2019-10-02
2. Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies;Frontiers in Immunology;2017-07-24
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