单词 |
ectodermal dysplasia anhidrotic with immunodeficiency x-linked |
释义 |
ectodermal dysplasia anhidrotic with immunodeficiency X-linked ectodermal dysplasia anhidrotic with immunodeficiency X-linked A form (OMIM:300291) of ectoderma dysplasia, a heterogeneous group of disorders defined as the abnormal development of two or more ectodermal structures. EDAID is characterised by absent sweat glands; sparse scalp hair; rare, cone-shaped teeth; and immune defects resulting in severe infections. Molecular pathology EDAID is caused by a mutation of IKBKG on chromosome Xq28, which encodes a regulatory subunit of the inhibitor of the IKK complex that activates NF-κB, upregulating genes involved in inflammation, immunity, cell survival and other pathways. |
随便看 |
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