A Novel De Novo NFKBIA missense mutation associated to ectodermal dysplasia with dysgammaglobulinemia
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...
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Main Authors: | , , , , , , , , , |
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Format: | Article |
Published: |
MDPI
2022
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Online Access: | http://eprints.um.edu.my/40841/ |
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