A Novel De Novo <i>NFKBIA</i> Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia

A Novel De Novo <i>NFKBIA</i> Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia

Background: Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of genetic disorders affecting immune function. In this report, a 17-month-old Malay patient suspected of having Hyper IgM syndrome, a type of IEIs, was described. However, the diagnosis of Hyper IgM syndrome was excl...

Full description

Bibliographic Details
Main Authors: Chai Teng Chear, Bader Abdul Kader El Farran, Marina Sham, Kavetha Ramalingam, Lokman Mohd Noh, Intan Hakimah Ismail, Mei Yee Chiow, Mohd Farid Baharin, Adiratna Mat Ripen, Saharuddin Bin Mohamad
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Genes
Subjects:
hyper IgM-like phenotype
<i>NFKBIA</i>
IκBα
NF-κB
post-translational modification
Online Access:https://www.mdpi.com/2073-4425/13/10/1900

Internet

https://www.mdpi.com/2073-4425/13/10/1900

Similar Items