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Does Hermansky–Pudlak syndrome predispose to systemic lupus erythematosus?
Author(s) -
Mitsui H.,
Komine M.,
Watanabe T.,
Kikuchi K.,
Okochi H.,
Tamaki K.
Publication year - 2002
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2002.04670.x
Subject(s) - hermansky–pudlak syndrome , medicine , frameshift mutation , dermatology , systemic lupus erythematosus , systemic disease , connective tissue disease , lupus erythematosus , immunology , pathology , gene , immunopathology , autoimmune disease , genetics , disease , biology , mutation , antibody , pulmonary fibrosis , fibrosis
Summary 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.