Anhidrotic ectodermal dysplasia: a new mutation

J Allergy Clin Immunol. 2013 Dec;132(6):1451-3. doi: 10.1016/j.jaci.2013.05.034. Epub 2013 Jul 16.

Authors

Gabriella Giancane¹, Simona Ferrari, Rita Carsetti, Paola Papoff, Metello Iacobini, Marzia Duse

Affiliation

¹ Department of Pediatrics, Sapienza University of Rome, Rome, Italy.

PMID: 23870671
DOI: 10.1016/j.jaci.2013.05.034

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Ectodermal Dysplasia / complications
Ectodermal Dysplasia / diagnosis
Ectodermal Dysplasia / genetics*
Female
Genetic Predisposition to Disease
Humans
I-kappa B Proteins / genetics
I-kappa B Proteins / metabolism*
Immunologic Tests / methods
Infant
Infant, Newborn
Infections / diagnosis
Infections / etiology
Infections / genetics*
Lymphocyte Activation / genetics
Mutation, Missense / genetics
NF-KappaB Inhibitor alpha
NF-kappa B / metabolism
Organogenesis / genetics
Polymorphism, Genetic
Signal Transduction / genetics
Sweat Glands / embryology
Sweat Glands / growth & development
Sweat Glands / pathology*
T-Lymphocytes / immunology*

Substances

I-kappa B Proteins
NF-kappa B
NFKBIA protein, human
NF-KappaB Inhibitor alpha