A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

Schimke, Lena F

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

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1573-2592

10.1007/s10875-013-9906-1 doi


Active Transport, Cell Nucleus--genetics
Cell Nucleus--metabolism
Child, Preschool
Cytokines--immunology
Ectodermal Dysplasia--immunology
Fibroblasts--immunology
HeLa Cells
Humans
I-kappa B Kinase--genetics
Immunologic Deficiency Syndromes--immunology
Infant
Lymphocyte Activation--genetics
Male
Mutation, Missense--genetics
Polyendocrinopathies, Autoimmune--immunology
Proteolysis
Th17 Cells--immunology
Transgenes--genetics