Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review
This case expands the mutational spectrum of LPIN2 and emphasizes the importance of early genetic testing in children with recurrent osteomyelitis and anemia refractory to standard therapy. Prompt recognition enables accurate diagnosis and timely initiation of IL-1-targeted therapy, which can markedly improve outcomes.
Authors
- Yali Wu (ORCID: https://orcid.org/0000-0002-9737-6439)
- Yan Ding (ORCID: https://orcid.org/0000-0002-7708-4391)
- Xuelian He (ORCID: https://orcid.org/0000-0002-6275-1219)
- Shasha Wang (ORCID: https://orcid.org/0000-0002-2136-6576)
- Ting Yu (ORCID: https://orcid.org/0000-0002-4482-4314)
Institutions
- Wuhan Children's Hospital (CN)
- Huazhong University of Science and Technology (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-10-02
- DOI
- https://doi.org/10.3389/fped.2025.1602509
- Primary Topic
- Osteomyelitis and Bone Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00