Cargando…
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review
Background: Germline mutations in signal transducer and activator of transcription 1 (STAT1), which lead to primary immunodeficiency, are classified as defects in intrinsic and innate immunity. To date, no comprehensive overview comparing GOF with LOF in early-onset immunodeficiency has been compile...
Autores principales: | Zhang, Wenjing, Chen, Xuemei, Gao, Guodong, Xing, Shubin, Zhou, Lina, Tang, Xuemei, Zhao, Xiaodong, An, Yunfei |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7991083/ https://www.ncbi.nlm.nih.gov/pubmed/33777053 http://dx.doi.org/10.3389/fimmu.2021.654406 |
Ejemplares similares
-
Clinical Application of Metagenomic Next-Generation Sequencing for Suspected Infections in Patients With Primary Immunodeficiency Disease
por: Tang, Wenjing, et al.
Publicado: (2021) -
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population
por: Luo, Xianze, et al.
Publicado: (2021) -
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation
por: Zimmerman, Ofer, et al.
Publicado: (2019) -
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations
por: Dai, Rongxin, et al.
Publicado: (2021) -
Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
por: Nemoto, Kazuki, et al.
Publicado: (2020)