Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency-Reference-Cited by-同舟云学术

Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency

Published:2019-02 Issue:2 Volume:39 Page:207-215
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Illig David,Navratil Marta,Kelečić Jadranka,Conca Raffaele,Hojsak Iva,Jadrešin Oleg,Ćorić Marijana,Vuković Jurica,Rohlfs Meino,Hollizeck Sebastian,Bohne Jens,Klein Christoph,Kotlarz Daniel

Funder

Leona M. and Harry B. Helmsley Charitable Trust

Deutsche Forschungsgemeinschaft

Bundesministerium für Bildung und Forschung

Deutscher Akademischer Austauschdienst

Care-for-Rare Foundation

Hanns-Seidel-Stiftung

Studienstiftung des deutschen Volkes

Else Kröner-Fresenius-Stiftung

Daimler und Benz Stiftung

Reinhard Frank Stiftung

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-019-00606-7.pdf

Reference28 articles.

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2. Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, De Saint-Basile G, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr. 1993;123:564–72.

3. Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997;130:378–87.

4. Felgentreff K, Perez-Becker R, Speckmann C, Schwarz K, Kalwak K, Markelj G, et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol. 2011;141:73–82.

5. Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625–55.

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