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X-Linked Anhidrotic/Hypohidrotic Ectodermal Dysplasia with Immunodeficiency Associated with a Point Mutation in NEMO

Specialty:

Genetics

Objective:

ICD-10:

Description:

A point mutation in NEMO can result in an X-linked recessive ectodermal dysplasia with immunodeficiency. Affected patients show an impaired antibody response to polysaccharide antigens.

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