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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 390 - 394 (5page)
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초록· 키워드
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Background Te coexistence of an autoimmune disease and amyotrophic lateral sclerosis (ALS) has led to the hypothesis that immune-mediated pathological mechanisms are overlapping in the two diseases. We report herein a rare coexistence of bullous pemphigoid (BP) in a novel mutation (F45S) of the gene encoding Cu/Zn superoxide dismutase (SOD1) in an ALS patient, and discuss a role for the SOD1 mutation in this unusual overlap.
Case Report A 57-year-old male with familial ALS, including vesicles and tense bullae on erythematous bases, was diagnosed with BP. Direct immunofuorescence revealed deposits of C3 and immunoglobulin G in the basement membrane zone. Direct sequencing of SOD1 in the patient revealed a novel mutation (c.137T>C; F45S).
Conclusions We report a novel SOD1 mutation in ALS, which was combined with BP. Tis novel SOD1 mutation could afect the phenotype of a combined autoimmune disease and matrix metalloproteinase-9. There may therefore be common factors linking BP and ALS with the SOD1 mutation.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Baek W / 2011 / A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis / J Neurol Sci 306 : 157 ~ 159
Bastuji-Garin S / 2011 / Risk factors for bullous pemphigoid in the elderly: a prospective case-control study / J Invest Dermatol 131 : 637 ~ 643
Chosidow O / 2000 / Bullous pemphigoid and amyotrophic lateral sclerosis: a new clue for understanding the bullous disease? / Arch Dermatol 136 : 521 ~ 524
Cordel N / 2007 / Neurological disorders in patients with bullous pemphigoid / Dermatology 215 : 187 ~ 191
Fang L / 2009 / Linking neuron and skin: matrix metalloproteinases in amyotrophic lateral sclerosis (ALS) / J Neurol Sci 285 : 62 ~ 66
Bastuji-Garin S / 2011 / Risk factors for bullous pemphigoid in the elderly: a prospective case-control study / J Invest Dermatol 131 : 637 ~ 643
Chosidow O / 2000 / Bullous pemphigoid and amyotrophic lateral sclerosis: a new clue for understanding the bullous disease? / Arch Dermatol 136 : 521 ~ 524
Cordel N / 2007 / Neurological disorders in patients with bullous pemphigoid / Dermatology 215 : 187 ~ 191
Fang L / 2009 / Linking neuron and skin: matrix metalloproteinases in amyotrophic lateral sclerosis (ALS) / J Neurol Sci 285 : 62 ~ 66
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