Does Hermansky–Pudlak syndrome predispose to systemic lupus erythematosus? | Zendy

Mitsui H. | Zendy; Komine M. | Zendy; Watanabe T. | Zendy; Kikuchi K. | Zendy; Okochi H. | Zendy; Tamaki K. | Zendy

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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.

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