Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

• Egile Nagusiak: Josefina Longeri Contreras (Egilea), Mabel A. Ladino (Egilea), Katherine Aránguiz (Egilea), Gonzalo P. Mendez (Egilea), Zeynep Coban-Akdemir (Egilea), Bo Yuan (Egilea), Richard A. Gibbs (Egilea), Lindsay C. Burrage (Egilea), James R. Lupski (Egilea), Ivan K. Chinn (Egilea), Tiphanie P. Vogel (Egilea), Jordan S. Orange (Egilea), M. Cecilia Poli (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2021-05-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in SLC7A7. Th...