Article

Case Report: X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency and an unusual Aspergillus infection

2016-10-31

Abstract excerpt

NEMO (NF-kB essential modulator) is a regulatory factor involved in signaling pathways of the innate and adaptative immune systems. Hypomorphic mutation of the NEMO gene (also called IKBKG gene) on the X chromosome leads to X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency. Affected male children present a developmental phenotype with hypotrichosis, hypohydrosis, and hypodontia with conica...

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Literature Corpus work: d1a7d9ac-0715-527d-afb6-232a5f4f5a09
DOI: 10.12688/f1000research.9783.1

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