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A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia.

Immunologic research - 1 Feb 2021

Ling Eduard, Broides Arnon, Ling Galina, Shubinsky George, Hadad Nurit, Nahum Amit, Simon Amos J, Lev Atar, Somech Raz

Abstract excerpt

Biallelic mutations in the zeta-associated protein 70 (ZAP70) gene cause combined immunodeficiency (CID). Neonatal screening for severe CID in Israel is implemented since 2015. We report on clinical, flow cytometry, and genetic data of an unusual ZAP70 deficiency patient. A 10-week-old Bedouin female presented with severe autoimmune hemolytic anemia. Cytomegalovirus (CMV) negative packed cell therapy was given...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33484432
DOI: 10.1007/s12026-021-09172-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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