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

Objective:

To identify novel variants in the NBAS gene.

Key Findings:
  • Two novel compound heterozygous variants in the NBAS gene were identified: c.5139-5T>G and c.5983C>T.
  • The c.5983C>T variant was classified as likely pathogenic.
  • The patient exhibited severe immune dysregulation, leading to HLH and poor prognosis.
Interpretation:

Limitations:
  • The study is based on a single patient case and a review of existing literature, which may not capture all clinical presentations.
Conclusion:

The identification of novel NBAS variants expands the phenotypic spectrum of NBAS-related disease.

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

Platelet-related parameters at initial diagnosis for predicting the risk of chronicity in children with newly diagnosed immune thrombocytopenia

Computed tomography-derived sarcopenia, enteral nutritional support, and febrile neutropenia burden in children with acute lymphoblastic leukemia: a retrospective cohort study

Dana-Farber Research News 04.15.2026

This twice-monthly newsletter highlights recently published research where Dana-Farber faculty are listed as first or senior authors. The information is pulled from PubMed and this issue notes papers published from March 16 - 31.

  • by

  • April 15, 2026

  • 22 min