A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency

A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency

IKBKG is the essential modulator for nuclear factor-κB(NF-κB) signaling pathway, and mutations within this gene can lead to anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID). Here we report a male patient, who presented with mild frontal bossing, sparse hair, skin pigmentation, conical t...

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Bibliographic Details
Main Authors: HUANG Xiaomei, LUO Ying, HE Tingyan, XU Yongbin, XIA Yu, YANG Zhi, ZHU Xiaona, HUANG Yanyan, WENG Ruohang, YANG Jun, WANG Linlin
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2024-10-01
Series:罕见病研究
Subjects:
ikbkg gene
pseudogene
ectodermal dysplasia
immunodeficiency
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.012
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