A case of CD8+ primary cutaneous peripheral T-cell lymphoma arising from tissue-resident memory T (TRM) cells in the skin.
A case of CD8+ primary cutaneous peripheral T-cell lymphoma arising from tissue-resident memory T (TRM) cells in the skin.
复制标题
一例由皮肤组织驻留记忆 T (TRM) 细胞引起的 CD8 原发性皮肤外周 T 细胞淋巴瘤。
DOI：
10.1111/bjd.13687
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Asada H
中科院分区：
文献类型：
--
作者：
Miyagawa F;Iioka H;Fukumoto T;Kobayashi N;Asada H
项目，也不是在434内部外显子。这种预测的功能丧失突变的性质和定位并不能将其与报道的HS突变区分开来。5总之，这些数据支持这种突变的致病性质。由于采用了患者3，排除了突变与疾病的共分离。患者1和2未显示NSCTN突变。据我们所知，这是第一例PASH综合征中的NCBI突变。PASH是否是一种单基因疾病，涉及单个基因的多效性突变，导致所有临床表现，或者它是否对应于不同疾病的组合，仍有待确定。例如，NCBI（或其他HS基因）的突变可能是PASH中HS的基础，而其他因素（如双基因遗传，修饰基因）可能导致与HS无关的其他特征。大样本的遗传谱系与多个受影响的个人将有可能研究共分离的HS与其他临床表现和突变。有趣的是，在家系2中，HS和痤疮共分离通过三代，而两个兄弟PASH综合征，这表明母亲的突变可能会导致HS和痤疮，而第二个突变可能是PG的基础。同样，父系和母系的突变，建议在家系1，其中父母都有痤疮。总之，我们报告了一例PASH综合征患者中的第一个NCBI突变。我们建议，NCBI突变筛查，除了PSTPIP1筛查，应考虑与PASH综合征患者，也可能与PAPASH综合征患者。
Project, nor in 434 in-house exomes. The nature and localization of this predicted loss-of-function mutation did not distinguish it from reported HS mutations. 5 Together, these data support the causative nature of this mutation. As patient 3 was adopted, cosegregation of the mutation with the disease was precluded. Patients 1 and 2 showed no NSCTN mutation. To our knowledge, this is the first case of NCSTN mutation in PASH syndrome. Whether PASH is a monogenic disorder and involves pleiotropic mutations in a single gene, leading to all clinical manifestations, or whether it corresponds to a combination of different diseases, remains to be determined. For example, mutations in NCSTN (or other HS genes) could underlie HS in PASH, whereas additional factors (eg digenic inheritance, modifier genes) could cause other features not related to HS. Large samples of genetic pedigrees with multiple-affected individuals would make it possible to study the cosegregation of HS with other clinical manifestations and mutations. Interestingly, in pedigree 2, HS and acne cosegregated through three generations, whereas the two brothers had PASH syndrome, suggesting that a maternal mutation could cause HS and acne, while a second mutation may underlie PG. Similarly, a paternal and maternal mutation is suggested in pedigree 1, in which both parents had acne only. In summary, we report the first NCSTN mutation in a patient with PASH syndrome. We suggest that NCSTN mutation screening, in addition to PSTPIP1 screening, should be considered for patients with PASH syndrome and possibly also for patients with PAPASH syndrome.