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Article

Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency.

Journal of clinical immunology - 22 Dec 2023

Benavides Nathalia, White Jason C, Sanmillan Maria L, Thomas Morgan, Le Trong, Caywood Emi, Giraudo Claudio G

Abstract excerpt

Zeta-chain associated protein kinase 70 kDa (ZAP70) combined immunodeficiency (CID) is an autosomal recessive severe immunodeficiency that is characterized by abnormal T-cell receptor signaling. Children with the disorder typically present during the first year of life with diarrhea, failure to thrive, and recurrent bacterial, viral, or opportunistic infections. To date, the only potential cure is hematopoietic...

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Identifiers

PMID: 38129328
DOI: 10.1007/s10875-023-01608-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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