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

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 presenti...

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Hauptverfasser:	Xiaozhen Gong, Ye Feng, Qianlu Zhang, Lin Tong, Zijuan Feng, Xiaodong Zhao, Lina Zhou, Ying Dou
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2026-06-01
Schriftenreihe:	Frontiers in Immunology
Schlagworte:	hematologic abnormalities HLH ILFS-2 immunodeficiency NBAS short stature
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fimmu.2026.1829362/full
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