DISEASE: Immunodeficiency without anhidrotic ectodermal dysplasia
Entry
H01245 Disease
Name
Immunodeficiency without anhidrotic ectodermal dysplasia
Description
A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoietic origin and resulted in a heterogeneous mixture of mutant and wild-type cDNA species.
Category
Primary immunodeficiency
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A0Y Other specified primary immunodeficiencies
H01245 Immunodeficiency without anhidrotic ectodermal dysplasia