Does Hermansky-Pudlak syndrome predispose to systemic lupus erythematosus?
We report a Japanese patient with Hermansky-Pudlak syndrome (HPS) who developed systemic lupus erythematosus (SLE). This is the second case report of HPS complicated with SLE. A 1-bp duplication of adenine at codon 441 was found in the HPS gene, namely HPS1, which caused a frameshift. This case serves as evidence indicating that a patient with HPS can be predisposed to SLE.
Mitsui
H
H
Department of Dermatology, Faculty of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. mitsuih-der@h.u-tokyo.ac.jp
Komine
M
M
Watanabe
T
T
Kikuchi
K
K
Okochi
H
H
Tamaki
K
K
D000328:Adult; D005260:Female; D016368:Frameshift Mutation; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics
C102160:HPS1 protein, human; D008565:Membrane Proteins