Novel compound heterozygous <scp> <i>MRTFA</i> </scp> gene variants cause multiple dysfunctions of neutrophils and autoinflammation
This study identifies the first reported case with compound heterozygous mutations in the MRTFA gene. The patient demonstrated a milder infectious phenotype but with marked neutrophil dysfunction and prominent autoinflammatory features. This study expands the disease spectrum of MKL1 deficiency and highlights the broader impacts of MKL1 deficiency on neutrophil function and immune regulation.
Authors
- Lina Zhou (ORCID: https://orcid.org/0000-0003-1973-5667)
- Ge Lv (ORCID: https://orcid.org/0000-0003-3763-1933)
- Lang Yu
- Yunfei An (ORCID: https://orcid.org/0000-0001-9664-1256)
- Wendao Li
- Zhiyong Zhang (ORCID: https://orcid.org/0000-0003-1622-3447)
- Lu Yang (ORCID: https://orcid.org/0000-0002-5428-7874)
- Xiaodong Zhao (ORCID: https://orcid.org/0000-0002-9379-5265)
- Rui Gan (ORCID: https://orcid.org/0000-0002-1214-6002)
- Xuemei Tang (ORCID: https://orcid.org/0000-0003-3905-0462)
- Wenjing Tang (ORCID: https://orcid.org/0000-0002-6428-2460)
- Yanan Li
Institutions
- Chongqing Maternal and Child Health Hospital (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Pediatric Allergy and Immunology
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1111/pai.70171
- Primary Topic
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Chongqing Medical University
- Centre Scientifique et Technique du Bâtiment