{"product_id":"9783658167950","title":"BestMedDiss: Primary Immunodeficiencies with Defective Class Switch and Autoimmunity","description":"\u003ch1\u003eBestMedDiss: Primary Immunodeficiencies with Defective Class Switch and Autoimmunity\u003c\/h1\u003e \u003ch2\u003eSalzer, Elisabeth\u003c\/h2\u003e \u003cp\u003e\u003c\/p\u003e\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 \u003ch3\u003eDetails\u003c\/h3\u003e \u003cp\u003ePublished by: Springer\u003c\/p\u003e \u003cp\u003ePublication Date: 2017-01-17\u003c\/p\u003e \u003cp\u003eFormat: Paperback\u003c\/p\u003e \u003cp\u003eISBN-13: 9783658167950\u003c\/p\u003e \u003cp\u003eDOI: 10.1007\/978-3-658-16796-7\u003c\/p\u003e \u003cp\u003eDimensions: 210cm x148cm\u003c\/p\u003e \u003cp\u003ePages: 76\u003c\/p\u003e ","brand":"Springer Fachmedien Wiesbaden","offers":[{"title":"Default Title","offer_id":46412215681164,"sku":"9783658167950","price":49.49,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0710\/9545\/1788\/files\/9783658167950.jpg?v=1772029333","url":"https:\/\/lateknightbooks.com\/products\/9783658167950","provider":"Late Knight Books and Services, LLC","version":"1.0","type":"link"}