Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-κB essential modulator mutation, with or without ectodermal dysplasia
Journal
Journal of the American Academy of Dermatology
Journal Volume
51
Journal Issue
5
Pages
718-722
Date Issued
2004
Author(s)
Abstract
Hypomorphic mutations of the nuclear factor κB essential modulator gene cause ectodermal dysplasia and immunodeficiency. Affected patients have increased susceptibility to mycobacterial disease including cutaneous manifestations. We describe clinical and histopathologic characteristics of 5 patients with nuclear factor κB essential modulator gene mutations and mycobacterial infections, two of whom had mycobacterial cutaneous infections.
SDGs
Other Subjects
I kappa B kinase gamma; protein; unclassified drug; adolescent; article; child; clinical article; controlled study; ectodermal dysplasia; gene mutation; genetic susceptibility; histopathology; human; human tissue; immune deficiency; infection sensitivity; male; mutagenesis; mycobacteriosis; priority journal; skin infection; skin manifestation; Adolescent; Child; Child, Preschool; Ectodermal Dysplasia; Humans; Immunocompromised Host; Infant; Male; Mutation; Mycobacterium Infections, Atypical; NF-kappa B
Type
journal article