Proline-serine-threonine phosphatase interacting protein 1-associated autoinflammatory diseases
10.3760/cma.j.cn101070-20200324-00491
- VernacularTitle:脯氨酸-丝氨酸-苏氨酸磷酸酶相互作用蛋白1相关自身炎症性疾病
- Author:
Ruqian FU
1
;
Zhihui LI
Author Information
1. 南华大学儿科学院，长沙 410007
- Keywords:
Proline-serine-threonine phosphatase interacting protein 1;
Autoinflammatory disease;
Pyogenic arthritis, pyoderma gangrenosum and acne syndrome;
Pyoderm
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(17):1354-1357
- CountryChina
- Language:Chinese
-
Abstract:
In addition to the pyogenic arthritis, pyoderma gangrenosum and acne(PAPA) syndrome, autoinflammatory diseases caused by mutations in the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene also include a group of clinical syndromes such as PSTPIP1-associated myeloid-related proteinemia inflammatory(PAMI) and pyoderma gangrenosum, acne, and hidradenitis suppurativa(PASH) syndrome.In this paper, the expanded spectrum and clinical characteristics of PSTPIP1 related autoinflammatory diseases were reviewed, so as to deepen clinicians′ understanding of this disease, facilitate early diagnosis, and finally improve the prognosis of patients.
