Literature DB >> 33184721

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

Kelsey Kaman1,2, Monique Abrams3, Kerry Dobbs4, Luigi D Notarangelo4, Ottavia M Delmonte4, Boaz Palterer5,6, Sung-Yun Pai7,8, Alicia Johnston3.   

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Year:  2020        PMID： 33184721      PMCID： PMC8319789          DOI： 10.1007/s10875-020-00913-4

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  3 in total

Review 1.  SCID due to ZAP-70 deficiency.

Authors:  M E Elder
Journal:  J Pediatr Hematol Oncol       Date:  1997 Nov-Dec       Impact factor: 1.289

2.  Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency.

Authors:  Serge Grazioli; Mary Bennett; Kyla J Hildebrand; Hilary Vallance; Stuart E Turvey; Anne K Junker
Journal:  Clin Immunol       Date:  2014-05-04       Impact factor: 3.969

3.  A novel Zap70 mutation with reduced protein stability demonstrates the rate-limiting threshold for Zap70 in T-cell receptor signalling.

Authors:  Bénédicte Cauwe; Lei Tian; Dean Franckaert; Wim Pierson; Kim A Staats; Susan M Schlenner; Adrian Liston
Journal:  Immunology       Date:  2014-03       Impact factor: 7.397
  3 in total

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