TY  - GEN
AU  - Schimke,Lena F
AU  - Rieber,Nikolaus
AU  - Rylaarsdam,Stacey
AU  - Cabral-Marques,Otávio
AU  - Hubbard,Nicholas
AU  - Puel,Anne
AU  - Kallmann,Laura
AU  - Sombke,Stephanie Anover
AU  - Notheis,Gundula
AU  - Schwarz,Hans-Peter
AU  - Kammer,Birgit
AU  - Hökfelt,Tomas
AU  - Repp,Reinald
AU  - Picard,Capucine
AU  - Casanova,Jean-Laurent
AU  - Belohradsky,Bernd H
AU  - Albert,Michael H
AU  - Ochs,Hans D
AU  - Renner,Ellen D
AU  - Torgerson,Troy R
TI  - A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy
SN  - 1573-2592
PY  - 2013///1210
KW  - Active Transport, Cell Nucleus
KW  - genetics
KW  - Cell Nucleus
KW  - metabolism
KW  - Child, Preschool
KW  - Cytokines
KW  - immunology
KW  - Ectodermal Dysplasia
KW  - Fibroblasts
KW  - HeLa Cells
KW  - Humans
KW  - I-kappa B Kinase
KW  - Immunologic Deficiency Syndromes
KW  - Infant
KW  - Lymphocyte Activation
KW  - Male
KW  - Mutation, Missense
KW  - Polyendocrinopathies, Autoimmune
KW  - Proteolysis
KW  - Th17 Cells
KW  - Transgenes
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10875-013-9906-1
ER  -