IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.

Authors :: Moriya K
Sasahara Y
Ohnishi H
Kawai T
Kanegane H
Source :: Journal of clinical immunology [J Clin Immunol] 2018 Jul; Vol. 38 (5), pp. 543-545. Date of Electronic Publication: 2018 Jun 14.
Publication Year :: 2018

Subjects :: Biomarkers
Biopsy
DNA Mutational Analysis
Diagnostic Imaging
Ectodermal Dysplasia metabolism
Heterozygote
Humans
Inflammation diagnosis
Male
Phenotype
Disease Susceptibility
Ectodermal Dysplasia diagnosis
Ectodermal Dysplasia etiology
I-kappa B Proteins genetics
Immunologic Deficiency Syndromes complications
Inflammation complications
Mutation

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