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Appendix
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Literature
1.
go back to reference Elder ME. SCID due to Zap-70 deficiency. J Pediatr Hematol Oncol. 1997;19(6):546–50.CrossRef Elder ME. SCID due to Zap-70 deficiency. J Pediatr Hematol Oncol. 1997;19(6):546–50.CrossRef
2.
go back to reference Walkovich K, Vander Lugt M. ZAP70-Related Combined Immunodeficiency. 2009 Oct 20 [Updated 2017 Jun 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. https://www.ncbi.nlm.nih.gov/books/NBK20221/. Accessed 10 April 2019. Walkovich K, Vander Lugt M. ZAP70-Related Combined Immunodeficiency. 2009 Oct 20 [Updated 2017 Jun 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. https://​www.​ncbi.​nlm.​nih.​gov/​books/​NBK20221/​. Accessed 10 April 2019.
3.
go back to reference Cauwe B, Tian L, Franckaert D, Pierson W, Staats KA, Schlenner SM, et al. A novel ZAP70 mutation with reduced protein stability demonstrates the rate-limiting threshold for ZAP70 in T cell receptor signaling. Immunology. 2014;141:377–87.CrossRef Cauwe B, Tian L, Franckaert D, Pierson W, Staats KA, Schlenner SM, et al. A novel ZAP70 mutation with reduced protein stability demonstrates the rate-limiting threshold for ZAP70 in T cell receptor signaling. Immunology. 2014;141:377–87.CrossRef
4.
go back to reference Grazioli S, Bennett M, Hildebrand KJ, Vallance H, Turvey SE, Junker AK. Limitation of TREC based newborn screening for ZAP70 severe combined immunodeficiency. Clin Immunol. 2014;153:209–10.CrossRef Grazioli S, Bennett M, Hildebrand KJ, Vallance H, Turvey SE, Junker AK. Limitation of TREC based newborn screening for ZAP70 severe combined immunodeficiency. Clin Immunol. 2014;153:209–10.CrossRef
5.
go back to reference Roifman CM, et al. Characterization of zeta-associated protein, 70 Kd (ZAP70)-deficient human lymphocytes. JACI. 2010;126:1126–233. Roifman CM, et al. Characterization of zeta-associated protein, 70 Kd (ZAP70)-deficient human lymphocytes. JACI. 2010;126:1126–233.
Metadata
Title
Novel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling
Authors
Kelsey Kaman
Monique Abrams
Kerry Dobbs
Luigi D. Notarangelo
Ottavia M. Delmonte
Boaz Palterer
Sung-Yun Pai
Alicia Johnston
Publication date
01-02-2021
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 2/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00913-4

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