Familial chilblain lupus in a child with heterozygous mutation in <i>SAMHD1</i> and normal interferon signature
Danny W. Linggonegoro, Hannah Song, K M Jones, P Y Lee, Birgitta Schmidt, Ruth Ann Vleugels, Jialiang Huang
Abstract
The type I interferonopathies comprise a growing group of genetically determined disorders that result in an abnormal upregulation of type I interferon (IFN).1 Familial chilblain lupus is a type I interferonopathy that is inherited as an autosomal dominant trait. It manifests early in childhood and is characterized by dusky purple patches, papules, and plaques that are exacerbated by cold exposure. Here we present a child with familial chilblain lupus, found to have a heterozygous SAMHD1 mutation with a unique interferon signature.
Topics & Concepts
SAMHD1Systemic lupus erythematosusInterferonLupus erythematosusInterferon type IMutationImmunologyMedicineGeneticsBiologyGenePathologyDiseaseAntibodyPolymerase chain reactionReverse transcriptaseinterferon and immune responsesInflammasome and immune disordersSystemic Lupus Erythematosus Research