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

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

  • By

  • Xiaozhen Gong

  • Ye Feng

  • Qianlu Zhang

  • Lin Tong

  • Zijuan Feng

  • Xiaodong Zhao

  • Lina Zhou

  • Ying Dou

  • June 1, 2026

  • 0 min

Share

  • 1

    Biallelic variants in the NBAS gene are linked to various syndromes, including SOPH syndrome and ILFS-2, with diverse clinical manifestations.

  • 2

    A novel compound heterozygous variant in the NBAS gene was identified in a patient with HLH, short stature, and recurrent infections.

  • 3

    The c.5139-5T>G variant caused aberrant splicing, while the c.5983C>T variant was classified as likely pathogenic according to ACMG guidelines.

  • 4

    Functional studies indicated impaired NBAS function due to a truncated protein resulting from the c.5983C>T variant.

  • 5

    The study highlights the potential for HLH as a severe complication in NBAS deficiency, emphasizing the need for early recognition.

Original Source(s)

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

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

  • June 1, 2026

Related Content

Outcomes of critically ill pediatric patients after haploidentical stem cell transplantation

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome

Targeted NGS Streamlines Myeloproliferative Neoplasm Diagnostics

Kritika Krishnamurthy shares real-world experience on advanced MPN genomic profiling

  • March 18, 2026

  • 9 min