The First Case of an Infant with Familial A20 Haploinsufficiency in Korea
Hye‐Young Kim, Ji Yeon Song, Woo‐Il Kim, Hyun‐Chang Ko, Su Eun Park, Ja‐Hyun Jang, Seong Heon Kim
Abstract
gene, leading to HA20. In conclusion, HA20 should be considered in the differential diagnosis of an infant with an early-onset dominantly inherited inflammatory disease that presents with recurrent oral and genital ulcerations and fluctuating autoantibodies. Additionally, it also should be considered in an infant with suspected NLE, whose symptoms and abnormal autoantibodies persist.
Topics & Concepts
MedicineHaploinsufficiencyExome sequencingSex organAutoantibodyDiseaseImmunologyInflammatory bowel diseaseDermatologyInternal medicinePhenotypeAntibodyGeneticsBiologyGeneinterferon and immune responsesNF-κB Signaling PathwaysInflammasome and immune disorders