Novel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling

Author:

Kaman KelseyORCID,Abrams Monique,Dobbs Kerry,Notarangelo Luigi D.,Delmonte Ottavia M.,Palterer Boaz,Pai Sung-Yun,Johnston Alicia

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Reference5 articles.

1. Elder ME. SCID due to Zap-70 deficiency. J Pediatr Hematol Oncol. 1997;19(6):546–50.

2. 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. 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.

4. 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.

5. Roifman CM, et al. Characterization of zeta-associated protein, 70 Kd (ZAP70)-deficient human lymphocytes. JACI. 2010;126:1126–233.

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