Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations
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چکیده
منابع مشابه
Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations
Ectodermal dysplasias (ED) are uncommon genetic disorders resulting in abnormalities in ectodermally derived structures. Many ED-associated genes have been described, of which ectodysplasin-A (EDA) is one of the more common. The NF-κB essential modulator (NEMO encoded by the IKBKG gene) is unique in that mutations result in severe humoral and cellular immunologic defects in addition to ED. We d...
متن کاملMutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia
474 Ann Dermatol Received July 7, 2014, Revised September 12, 2014, Accepted for publication September 19, 2014 Corresponding author: Keith A Choate, Departments of Dermatology, Genetics, and Pathology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA. Tel: 1-203-785-3912, Fax: 1-888-480-780, E-mail: [email protected] This is an Open Access article distributed ...
متن کاملEight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients
Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the teeth, hair, and sweat glands. Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and HED has not yet been validated. In this study, we included patients who presented at least two of the three ec...
متن کاملHypohidrotic ectodermal dysplasia.
X linked hypohidrotic ectodermal dysplasia was studied in the dentition of both affected males and carrier females. Hypodontia was more severe in males than females and there were differences in the pattern of tooth absence between the sexes. Abnormal crown form, with the maximum diameter of the teeth being apically displaced, was noted particulady in the anterior teeth. Taurodontism was common...
متن کاملAnhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.
Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). This protein is essential for activation of the transcription factor NF-kappaB, which plays an im...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2011
ISSN: 1664-3224
DOI: 10.3389/fimmu.2011.00061