ResearchPad - 310 https://www.researchpad.co Default RSS Feed en-us © 2020 Newgen KnowledgeWorks <![CDATA[Concomitant <i>PIK3CD</i> and <i>TNFRSF9</i> deficiencies cause chronic active Epstein-Barr virus infection of T cells]]> https://www.researchpad.co/article/elastic_article_15290

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<![CDATA[Inherited IL-18BP deficiency in human fulminant viral hepatitis]]> https://www.researchpad.co/article/Ne7f3a1f6-1e5b-4764-8b97-962cbded256d

We report autosomal recessive IL-18BP deficiency in a child who died of fulminant hepatitis upon infection with hepatitis A virus. Deficiency of IL-18BP leads to excessive IL-18 activity and uncontrolled IL-18–mediated hepatotoxicity in the infected liver.

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<![CDATA[E-protein–regulated expression of CXCR4 adheres preselection thymocytes to the thymic cortex]]> https://www.researchpad.co/article/N81ad4613-48c9-4d03-b4fe-e0b204b186eb

The E-protein transcription factors E2A and HEB regulate thymocyte expression of the chemokine receptor CXCR4 to retain preselection thymocytes in the thymic cortex. TCR-mediated positive selection signals extinguish CXCR4 expression to allow positively selected thymocytes to migrate from the cortex into the thymic medulla.

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<![CDATA[The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses]]> https://www.researchpad.co/article/5c910786d5eed0c4841a4439

de Jong et al. show that loss-of-function mutations in CIB1 are responsible for epidermodysplasia verruciformis, a cutaneous disease caused by human β-papillomavirus (β-HPV) infections, and that CIB1 forms a complex with EVER proteins, acting as a restriction factor against HPV.

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<![CDATA[Germline-activating mutations in PIK3CD compromise B cell development and function]]> https://www.researchpad.co/article/5c69ecb5d5eed0c48414e1fc

PIK3CD mutations cause immune dysregulation. By studying humans and a novel mouse model, we show these mutations intrinsically impair B-cell development and function. These findings reveal mechanisms of compromised humoral immunity due to PIK3CD mutations, and opportunities to pharmacologically restore these defects.

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<![CDATA[Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects]]> https://www.researchpad.co/article/5c01f8d4d5eed0c4842bee1f

Rujano et al. report mutations in ATP6AP2 leading to liver disease, immunodeficiency, and psychomotor impairment. ATP6AP2 deficiency impairs the assembly and function of the V-ATPase proton pump, causing defects in protein glycosylation and autophagy.

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