Litcius/Paper detail

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

J Hecker, Marilena Letizia, Britt-Sabina Loescher, Britta Siegmund, Carl Weidinger

2022Journal of Clinical Immunology11 citationsDOIOpen Access PDF

Abstract

With great interest, we have read the research letter by Jamilloux et al. recently reporting three cases of patients with auto-inflammation and concomitant ectodermal dysplasia and progressive loss of vision due to mutations in the -kinase 1 (ALPK1) gene

Topics & Concepts

InflammationMedicineMedical microbiologyArthritisMutationTumor necrosis factor alphaImmunologyBiologyGeneticsGeneInflammasome and immune disordersSystemic Lupus Erythematosus Researchinterferon and immune responses