A Novel De Novo NFKBIA 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...

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Detalles Bibliográficos
Autores principales: Chear, Chai Teng, El Farran, Bader Abdul Kader, Sham, Marina, Ramalingam, Kavetha, Noh, Lokman Mohd, Ismail, Intan Hakimah, Chiow, Mei Yee, Baharin, Mohd Farid, Ripen, Adiratna Mat, Mohamad, Saharuddin Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602067/
https://www.ncbi.nlm.nih.gov/pubmed/36292785
http://dx.doi.org/10.3390/genes13101900

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602067/
https://www.ncbi.nlm.nih.gov/pubmed/36292785
http://dx.doi.org/10.3390/genes13101900

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