Immune function analysis in a pediatric patient with a de novo ALPK1 gene mutation
This case links a <i>de novo ALPK1</i> mutation to constitutive NF-κB activation and immune dysfunction in ROSAH syndrome. Early genetic and immunological screening is essential for diagnosis and management of ROSAH syndrome. Targeted immunotherapy may alleviate symptoms, but further research is needed to define standardized approaches for this rare disorder.
Authors
- Zuochen Du (ORCID: https://orcid.org/0000-0002-4537-6672)
- Qing Du (ORCID: https://orcid.org/0000-0002-6246-3479)
- Pei Huang (ORCID: https://orcid.org/0000-0002-1593-1516)
- Shiyue Hu
- Hong Li (ORCID: https://orcid.org/0000-0001-8591-4167)
- Qian Li (ORCID: https://orcid.org/0000-0003-4657-1020)
- Ping Zhang (ORCID: https://orcid.org/0000-0001-9163-6191)
- Yan Chen (ORCID: https://orcid.org/0000-0002-5488-7802)
- Xue Chuan
- Aiyan Ren
- Lin Wang (ORCID: https://orcid.org/0000-0003-3033-4792)
- Yin Zhu
Institutions
- Zunyi Medical University (CN)
- First People’s Hospital of Zunyi (CN)
- Affiliated Hospital of Zunyi Medical College (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-10-29
- DOI
- https://doi.org/10.3389/fimmu.2025.1622079
- Primary Topic
- Osteomyelitis and Bone Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00