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

Abstract excerpt

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 α-kinase 1 (ALPK1) gene [1].We here describe the case of a 47-year-old Caucasian female presenting herself in our outpatient clinic with a history of therapy-refractory, early-onset...

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