Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation-Reference-Cited by-同舟云学术

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Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation

Published:2022-03-02 Issue:4 Volume:42 Page:880-884
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Hecker Julia,Letizia Marilena,Loescher Britt-Sabina,Siegmund Britta,Weidinger Carl^ORCID

Funder

deutsche forschungsgemeinschaft

clinician scientist program of the berlin institute of health

fritz thyssen stiftung

Charité - Universitätsmedizin Berlin

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

https://link.springer.com/content/pdf/10.1007/s10875-022-01214-8.pdf

Reference5 articles.

1. Jamilloux Y, Mathis T, Grunewald O, Dollfuss H, Henry T, Sève P, et al. ALPK1 gene mutations drive autoinflammation with ectodermal dysplasia and progressive vision loss. J Clin Immunol. 2021.

2. Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, et al. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genet Med. 2019;21(9):2103–15.

3. Zhou P, She Y, Dong N, Li P, He H, Borio A, et al. Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose. Nature. 2018;561(7721):122–6.

4. Weinhold KJ, Bukowski JF, Brennan TV, Noveck RJ, Staats JS, Lin L, et al. Reversibility of peripheral blood leukocyte phenotypic and functional changes after exposure to and withdrawal from tofacitinib, a Janus kinase inhibitor, in healthy volunteers. Clin Immunol. 2018;191:10–20.

5. Zhong L, Wang J, Wang W, Wang L, Quan M, Tang X, et al. Juvenile onset splenomegaly and oculopathy due to germline mutation in ALPK1. J Clin Immunol. 2020;40(2):350–8.

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