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Partial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations.
Scandinavian Journal of Immunology ( IF 3.7 ) Pub Date : 2020-08-31 , DOI: 10.1111/sji.12966
Zahra Alizadeh 1 , Susan Nabilou 1 , Marzieh Mazinani 1 , Shaghayegh Tajik 1 , Amir Ali Hamidieh 2 , Masoud Houshmand 3 , Mohammad Reza Fazlollahi 1 , Zahra Pourpak 1
Affiliation  

Hermansky‐Pudlak Syndrome (HPS) (OMIM: #608233) is a rare genetic disorder firstly described in 1959 by Frantisek Hermansky and Paulus Pudlak. HPS, which has been classified into ten different subtypes based on causative genes, clinically varies from mild to severe. The common clinical manifestations of all HPS subtypes are oculocutaneous albinism, platelets dysfunction leads to bleeding tendency and/or the other appearances such as granulomatous, and pulmonary fibrosis.

中文翻译:

Hermansky-Pudlak II 型患者的部分白化病和免疫缺陷:引入 2 种新突变。

Hermansky‐Pudlak 综合征 (HPS) (OMIM: #608233) 是一种罕见的遗传疾病,由 Frantisek Hermansky 和 ​​Paulus Pudlak 于 1959 年首次描述。HPS根据致病基因分为十种不同的亚型,临床上从轻度到重度不等。所有 HPS 亚型的常见临床表现是眼皮肤白化病、血小板功能障碍导致出血倾向和/或肉芽肿和肺纤维化等其他表现。
更新日期:2020-09-01
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