Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia.
Hypomorphic mutations of the nuclear factor kappaB 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 kappaB essential modulator gene mutations and mycobacterial infections, two of whom had mycobacterial cutaneous infections.
Dai
Yang-Shia
YS
Department of Dermatology, National Taiwan University Hospital, Taipei, Taiwan.
Liang
Marilyn G
MG
Gellis
Stephen E
SE
Bonilla
Francisco A
FA
Schneider
Lynda C
LC
Geha
Raif S
RS
Orange
Jordan S
JS
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000150:complications*; D006801:Humans; D016867:Immunocompromised Host; D007223:Infant; D008297:Male; D009154:Mutation; D009165:Mycobacterium Infections, Nontuberculous / Q000150:complications / Q000235:genetics* / Q000276:immunology*; D016328:NF-kappa B / Q000235:genetics*
D016328:NF-kappa B