The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants.

doi:10.1007/s10875-026-01989-0

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Article

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants.

Journal of clinical immunology - 6 Mar 2026

Göktaş Serdar, Kalaycik Sengul Ozlem, Erdem Şerife, Eke Güngör Hatice, Babayeva Royala, Bilgic-Eltan Sevgi, Güzel Turan, Dörterler Koray, Rohlfs Meino, Özcan Alper, Yilmaz Ebru, Karakukcu Musa, Akar Haluk Himmet, Karakoc-Aydiner Elif, Özen Ahmet, Elmas Muhsin, Patiroğlu Türkan, Doğan Muhammet E, Baş Hasan, Taylor Naomi, Baris Safa, Klein Christoph, Eken Ahmet, Ünal Ekrem

Abstract excerpt

PURPOSE: Zeta-chain-associated protein kinase 70 (ZAP-70) deficiency, a rare form of combined immunodeficiency (CID), is caused by homozygous or compound heterozygous variants in the ZAP70 gene. ZAP-70, a tyrosine kinase, plays a key role in T-cell receptor (TCR) signaling, which is critical for T cell activation. ZAP-70 deficiency manifests clinically in a variety of ways, including recurring respiratory...

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Identifiers

PMID: 41790376
DOI: 10.1007/s10875-026-01989-0
PMCID: PMC13004735

Genes

ZAP70

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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