A Novel De Novo NFKBIA missense mutation associated to ectodermal dysplasia with dysgammaglobulinemia

• Main Authors: 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
• Format: Article
• Published: MDPI 2022
• Subjects: Q Science (General); R Medicine
• Online Access: http://eprints.um.edu.my/40841/

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 excluded by the...