- 著者一覧
- 長谷川 俊史
長谷川 俊史
所属
山口大学
登録番号 (降順)
The bulletin of the Yamaguchi Medical School 69 巻 1-2 号
pp. 21 - 25
2022-06 発行
Incontinentia pigmenti (IP; OMIM# 308300) is a rare inherited disease caused by a mutation of IKBKG, which is also known as NEMO, located on Xq28. IP patients usually present with abnormalities of skin, eyes, nails and central nervous system. The neurological damege, which occur usually from neonatal through the early infantile period, leads to neulogical complication such as development retardation, motor paralysis and epilepsy. However, there has been little study done concerning the effect of therapy for the neural abnormalities. We have investigated the clinical findings in a female IP case with a novel mutation of IKBKG for six years due to disclosing the neurological prognosis and the immunological features. It is hoped that the present study will contribute to a better management of IP patients.
The bulletin of the Yamaguchi Medical School 65 巻 1-2 号
pp. 21 - 25
2018 発行
小児保健研究 71 巻 5 号
pp. 773 - 779
2012-09-30 発行
Brain & development
2013-01-03 発行
小児保健研究 70 巻 6 号
pp. 744 - 752
2011-11 発行
Clinical and experimental immunology 169 巻 1 号
pp. 33 - 37
2012-07 発行
日本小児科学会雑誌 116 巻 2 号
pp. 361 - 361
2012-02-01 発行
アレルギー 60 巻 9 号
pp. 1437 - 1437
2011-10-10 発行
アレルギー 60 巻 9 号
pp. 1393 - 1393
2011-10-10 発行
Journal of medical microbiology 61 巻 3 号
pp. 410 - 419
2012-03 発行
Cytokine 55 巻 1 号
pp. 24 - 28
2011-07 発行
Cytokine 54 巻 2 号
pp. 167 - 172
2011-05 発行
Allergy 66 巻 12 号
pp. 1618 - 1620
2011-12 発行
山口医学 48 巻 4 号
pp. 159 - 164
1999-08 発行