The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

Gamez-Diaz Laura; August Dietrich; Stepensky Polina; Revel-Vilk Shoshana; Seidel Markus G.; Noriko Mitsuiki; Morio Tomohiro; Worth Austen J. J.; Blessing Jacob; Van de Veerdonk Frank; Feuchtinger Tobias; Kanariou Maria; Schmitt-Graeff Annette; Jung Sophie; Seneviratne Suranjith; Burns Siobhan; Belohradsky Bernd H.; Rezaei Nima; Bakhtiar Shahrzad; Speckmann Carsten; Jordan Michael; Grimbacher Bodo

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The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

机译：LPS反应性米色样锚蛋白（LRBA）缺乏症的扩展表型

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Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency caused by biallelic mutations in LRBA that abolish LRBA protein expression.

机译：背景：LPS反应性的米色样锚蛋白（LRBA）缺乏症是由LRBA中的双等位基因突变导致的LRBA蛋白表达缺失引起的主要免疫缺陷。

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《The Journal of Allergy and Clinical Immunology》 |2016年第1期|共8页
作者
Gamez-Diaz Laura; August Dietrich; Stepensky Polina; Revel-Vilk Shoshana; Seidel Markus G.; Noriko Mitsuiki; Morio Tomohiro; Worth Austen J. J.; Blessing Jacob; Van de Veerdonk Frank; Feuchtinger Tobias; Kanariou Maria; Schmitt-Graeff Annette; Jung Sophie; Seneviratne Suranjith; Burns Siobhan; Belohradsky Bernd H.; Rezaei Nima; Bakhtiar Shahrzad; Speckmann Carsten; Jordan Michael; Grimbacher Bodo;
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正文语种 eng
中图分类医学免疫学;
关键词
LPS-responsive beige-like anchor protein; primary immunodeficiency; common variable Immunodeficiency; autoimmunity; hypogammaglobulinemia; enteropathy; lymphoproliferation;

机译：LPS响应性米色样锚蛋白;原发性免疫缺陷;常见免疫缺陷;自身免疫;低聚球蛋白血症;肠病;淋巴增生;

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1. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency [J] . Gamez-Diaz Laura, August Dietrich, Stepensky Polina, The Journal of Allergy and Clinical Immunology . 2016,第1期

机译：LPS反应性米色样锚蛋白（LRBA）缺乏症的扩展表型
2. Leishmaniasis and Autoimmunity in Patient with LPS-Responsive Beige-Like Anchor Protein (LRBA) Deficiency [J] . Salami Fereshte, Shirkani Afshin, Shahrooei Mohammad, Endocrine, metabolic & immune disorders drug targets . 2020,第3期

机译：Leishmaniaisis和患者的自身免疫性患有LPS响应米色的锚蛋白（LRBA）缺乏症
3. LIPOPOLYSACCHARIDE-RESPONSIVE AND BEIGE-LIKE ANCHOR (LRBA) PROTEIN DEFICIENCY MANIFESTING WITH LYPODISTROPHY AND ALPS-LIKE PHENOTYPE TREATED WITH LEPTIN AND RAPAMYCIN [J] . Barzaghi Federica, Passerini Laura, Sartirana Claudia, Journal of Clinical Immunology . 2016,第3期

机译：脂多糖和脂蛋白和雷帕霉素治疗的脂多糖和脂蛋白样锚定的脂多糖响应和米色锚蛋白（LRBA）蛋白质缺乏症的表现
4. Preparation of cytochromes b5 with an extended COOH-terminal hydrophilic segment: Interaction of modified tail-anchored proteins with liposomes in different cholesterol content [C] . Sakamoto Y., Takeuchi F., Miura M., Micro-NanoMechatronics and Human Science, 2009. MHS 2009 . 2009

机译：具有扩展的COOH-末端亲水片段的细胞色素b 5 的制备：修饰的尾部锚定蛋白与不同胆固醇含量的脂质体的相互作用
5. Characterization of the targeting and membrane insertion of mitochondrial tombusvirus replication proteins and tail-anchored proteins . [D] . Hwang, Yeen Ting. 2010

机译：线粒体肺炎病毒复制蛋白和尾锚蛋白的靶向和膜插入特性。
6. Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency [O] . Markus G. Seidel, Tatjana Hirschmugl, Laura Gamez-Diaz, -1

机译：LPS反应性米色样锚（LRBA）缺乏同种异体造血干细胞移植后的长期缓解。
7. Systemic Vasculitis and High IgE Level in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency [O] . Jing Wu, Wei-Fan Wang, Tong-Xin Chen, 2019

机译：具有LPS响应米色样锚（LRBA）缺乏的患者的全身血管炎和高IgE水平

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

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