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Article

A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review.

Frontiers in immunology - 1 Jan 2026

Gong Xiaozhen, Feng Ye, Zhang Qianlu, Tong Lin, Feng Zijuan, Zhao Xiaodong, Zhou Lina, Dou Ying

Abstract excerpt

Biallelic variants in the neuroblastoma amplified sequence (NBAS) gene have been associated with short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome, infantile liver failure syndrome type 2 (ILFS-2), and an increasingly broad spectrum of clinical phenotypes. However, cases presenting with hemophagocytic lymphohistiocytosis (HLH) accompanied by immune dysfunction and multisystem involvement have...

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Identifiers

PMID: 42305553
DOI: 10.3389/fimmu.2026.1829362
PMCID: PMC13265293

Genes

NBAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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