{"product_id":"identifying-novel-inborn-errors-of-elisabeth-salzer-9783658167950","title":"Identifying Novel Inborn Errors of the Immune System: Primary Immunodeficiencies with Defective Class Switch and Autoimmunity","description":"\u003cp\u003eIn her study Elisabeth Salzer describes three novel monogenic diseases. For \u003ci\u003eCD27\u003c\/i\u003e deficiency Elisabeth Salzer describes a large cohort of patients. Although all patients shared the same causative missense mutation, they displayed diverse clinical presentations. In another patient she was able to identify a mutation in \u003ci\u003ePRKCD\u003c\/i\u003e resulting in a primary immunodeficiency with severe Lupus-like autoimmunity. The patient exhibited increased mRNA levels of \u003ci\u003eIL6\u003c\/i\u003e. Therefore, treatment with Tocilizumab, a humanized anti-IL-6 receptor monoclonal antibody was suggested. In a family with a history of deaths due to inflammatory bowel disease she identified a missense mutation in \u003ci\u003eIL21\u003c\/i\u003e. She produced wild type and mutated IL-21 protein and demonstrated a loss of function phenotype. As IL-21 is in clinical trials, she proposed a potentially curative treatment option. These discoveries contributed to the understanding of the multifaceted regulatory mechanisms of the immune systemand highlighted essential players in these complex signaling networks.\u003c\/p\u003e\u003cbr\u003e\u003cbr\u003e\u003cb\u003eAuthor:\u003c\/b\u003e Elisabeth Salzer\u003cbr\u003e\u003cb\u003eISBN-10:\u003c\/b\u003e 3658167955\u003cbr\u003e\u003cb\u003eISBN-13:\u003c\/b\u003e 9783658167950\u003cbr\u003e\u003cb\u003ePublisher:\u003c\/b\u003e Springer\u003cbr\u003e\u003cb\u003eLanguage:\u003c\/b\u003e English\u003cbr\u003e\u003cb\u003ePublished:\u003c\/b\u003e 01\/17\/2017\u003cbr\u003e\u003cb\u003ePages:\u003c\/b\u003e 76\u003cbr\u003e\u003cb\u003eFormat:\u003c\/b\u003e Paperback\u003cbr\u003e\u003cb\u003eWeight:\u003c\/b\u003e 0.29lbs\u003cbr\u003e\u003cb\u003eSize:\u003c\/b\u003e 8.27h x 5.83w x 0.21d","brand":"Elisabeth Salzer","offers":[{"title":"Paperback","offer_id":47424609583359,"sku":"9783658167950","price":54.99,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0662\/2982\/9887\/files\/img_106a0f6e-1c39-4356-93ed-8acc25dab0a5.jpg?v=1761531367","url":"https:\/\/www.whiterainbookhouse.com\/products\/identifying-novel-inborn-errors-of-elisabeth-salzer-9783658167950","provider":"WR Book House","version":"1.0","type":"link"}