由CASP10基因突变引起的自身免疫性淋巴增殖综合征的非典型表现。
Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.
作者信息
Tripodi Serena Ilaria, Mazza Cinzia, Moratto Daniele, Ramenghi Ugo, Caorsi Roberta, Gattorno Marco, Badolato Raffaele
机构信息
Department of Pediatrics, University of Brescia, Italy.
Department of Molecular and Translational Medicine, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Italy.
出版信息
Immunol Lett. 2016 Sep;177:22-4. doi: 10.1016/j.imlet.2016.07.001. Epub 2016 Jul 1.
Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαβ(+) CD4(-)/CD8(-) T cells. This observation suggests that cutaneous infections can be observed in ALPS patients carrying CASP10 mutations.
在此，我们描述了一名8岁男孩的病例，该男孩被诊断为非典型自身免疫性淋巴细胞增生综合征（ALPS），携带半胱天冬酶10基因（CASP10）的杂合突变（I406L）。他出现了多处皮肤非侵袭性感染，这些感染与慢性非恶性非感染性淋巴结病、生长发育迟缓、虚弱、关节痛、复发性口腔阿弗他溃疡以及TCRαβ(+) CD4(-)/CD8(-) T细胞扩增有关。这一观察结果表明，在携带CASP10突变的ALPS患者中可观察到皮肤感染。
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