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

J Clin Immunol. 2021 Feb;41(2):470-472. doi: 10.1007/s10875-020-00913-4. Epub 2020 Nov 13.

Kelsey Kaman^{1

2}, Monique Abrams³, Kerry Dobbs⁴, Luigi D Notarangelo⁴, Ottavia M Delmonte⁴, Boaz Palterer^{5

6}, Sung-Yun Pai^{7

8}, Alicia Johnston³

¹ Department of Pediatrics, UMMS-Baystate, Springfield, MA, USA. kelseykaman@gmail.com.
² Department of Allergy and Immunology, Yale University, CT, New Haven, USA. kelseykaman@gmail.com.
³ Department of Pediatrics, UMMS-Baystate, Springfield, MA, USA.
⁴ Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.
⁵ Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.
⁶ Flow Cytometric Diagnostic Centre and Immunotherapy, Careggi University Hospital, Florence, Italy.
⁷ Division of Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA, USA.
⁸ Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.

No abstract available

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