Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation
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- 作者：Serena Ilaria Tripodia ; serena.tripodi@alice.it" class="auth_mail" title="E-mail the corresponding author ; Cinzia Mazzab ; Daniele Morattob ; Ugo Ramenghic ; Roberta Caorsid ; Marco Gattornod ; Raffaele Badolatoa
- 关键词：Immunodeficiencies ; Autoimmunity ; Lymphocytes
- 刊名：Immunology Letters
- 出版年：2016
- 出版时间：September 2016
- 年：2016
- 卷：177
- 期：Complete
- 页码：22-24
- 全文大小：215 K
文摘
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Heterozygous CASP10 mutations are associated to infectious and non infectious manifestations including multiple infections of the skin.
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Heterozygous CASP10 mutations can be associated to expansion of TCRαβ+ CD4−/CD8− T cells.
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Autoimmune lymphoproliferative syndrome (ALPS) due to CASP10 mutations can be inherited as autosomal dominant trait with incomplete penetrance.