A hypermorphic I kappa B alpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

Authors :: Courtois, G
Smahi, A
Reichenbach, J
Doffinger, R
Cancrini, C
Bonnet, M
Puel, A
Chable Bessia, C
Yamaoka, S
Feinberg, J
Dupuis Girod, S
Bodemer, C
Livadiotti, S
Novelli, F
Rossi, P
Fischer, A
Israel, A
Munnich, A
Le Deist, F
Casanova, Jl
Publication Year :: 2003

Subjects :: Male
CD40 ligand
complementary DNA
cytokine
genomic DNA
I kappa B alpha
I kappa B kinase
I kappa B kinase gamma
immunoglobulin enhancer binding protein
interleukin 18
interleukin 1beta
T lymphocyte receptor
tumor necrosis factor alpha
tumor necrosis factor receptor
unclassified drug
CHUK protein, human
I kappa B
I kappa B beta
IKBKB protein, human
IKBKE protein, human
lymphocyte antigen receptor
protein serine threonine kinase
anhidrosis
anhidrotic ectodermal dysplasia
article
autosomal dominant disorder
case report
cellular immunity
controlled study
disease association
ectodermal dysplasia
gene
gene mutation
human
human cell
IKBA gene
immune deficiency
immunogenetics
infant
male
priority journal
T lymphocyte
X chromosome linked disorder
child
genetic transcription
genetics
immunology
mutation
physiology
signal transduction
Child
Ectodermal Dysplasia
Humans
I-kappa B Kinase
I-kappa B Proteins
Immunologic Deficiency Syndromes
Mutation
NF-kappa B
Protein-Serine-Threonine Kinases
Receptor-CD3 Complex, Antigen, T-Cell
Signal Transduction
T-Lymphocytes
Transcription, Genetic
Tumor Necrosis Factor-alpha
Receptor-CD3 Complex
Antigen
IKBKE protein
Transcription
Genetic
Settore MED/38 - Pediatria Generale e Specialistica
CHUK protein
T-Cell
IKBKB protein

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