Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation
Our study provided detailed clinical features of four CXCR4<sup>V340fs</sup> WHIM patients from one Chinese family who presented atypical phenotype and enrich the spectrum of WHIM syndrome.
Authors
- Lina Zhou (ORCID: https://orcid.org/0000-0003-1973-5667)
- Yuying Huang (ORCID: https://orcid.org/0000-0001-8783-198X)
- Li Lü (ORCID: https://orcid.org/0000-0002-3905-1273)
- Lang Yu
- Yunfei An (ORCID: https://orcid.org/0000-0001-9664-1256)
- Xiaodong Zhao (ORCID: https://orcid.org/0000-0003-2054-8711)
- Xuemei Tang (ORCID: https://orcid.org/0000-0003-2667-3572)
- Ran Chen (ORCID: https://orcid.org/0000-0002-8967-7258)
- Ying Dou (ORCID: https://orcid.org/0000-0001-9037-6420)
- Zhiyong Zhang (ORCID: https://orcid.org/0000-0001-9130-9916)
- Yanjun Jia
- Shunkai Zhao
Institutions
- Tufts University (US)
- Children's Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2024-11-07
- DOI
- https://doi.org/10.3389/fimmu.2024.1460990
- Citations
- 2
- Primary Topic
- Chemokine receptors and signaling
- Type
- article
- Field-Weighted Citation Impact
- 0.57