Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations
Author:
Funder
National Natural Science Foundation of China
National Key Research and Development Program of China
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10875-024-01720-x.pdf
Reference36 articles.
1. Villarino AV, Kanno Y, O’Shea JJ. Mechanisms and consequences of Jak-STAT signaling in the immune system. Nat Immunol. 2017;18(4):374–84. https://doi.org/10.1038/ni.3691.
2. Zhang W, Chen X, Gao G, et al. Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review. Front Immunol. 2021;12:654406. https://doi.org/10.3389/fimmu.2021.654406.
3. Toubiana J, Okada S, Hiller J, et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016;127(25):3154–64. https://doi.org/10.1182/blood-2015-11-679902.
4. Chen X, Xu Q, Li X, et al. Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China. J Clin Immunol. 2020;40(1):82–95. https://doi.org/10.1007/s10875-019-00688-3.
5. Asano T, Utsumi T, Kagawa R, Karakawa S, Okada S. Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1. Clin Exp Immunol. 2023;212(2):96–106. https://doi.org/10.1093/cei/uxac106.
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