Schimke, Lena F <br/><br/>
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.  [electronic resource] 

 -  Journal of clinical immunology  Aug 2013 
 - 1088-99 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-2592 
<br/><br/><label>Standard No.: </label>10.1007/s10875-013-9906-1  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Active Transport, Cell Nucleus--genetics<br/>Cell Nucleus--metabolism<br/>Child, Preschool<br/>Cytokines--immunology<br/>Ectodermal Dysplasia--immunology<br/>Fibroblasts--immunology<br/>HeLa Cells<br/>Humans<br/>I-kappa B Kinase--genetics<br/>Immunologic Deficiency Syndromes--immunology<br/>Infant<br/>Lymphocyte Activation--genetics<br/>Male<br/>Mutation, Missense--genetics<br/>Polyendocrinopathies, Autoimmune--immunology<br/>Proteolysis<br/>Th17 Cells--immunology<br/>Transgenes--genetics