免疫缺陷病患者分枝杆菌感染特征和核因子-κB的原发性调节突变、伴和不伴外胚层发育不良

Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-κB essential modulator mutation, with or without ectodermal dysplasia

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.