DOI: 10.1093/cid/ciag602 ISSN: 1058-4838
Disseminated Nontuberculous Mycobacterial Disease in NEMO and Iκbα Defects
Chen Wang, Amanda Elias Rivera, David E Kleiner, Chi Adrian Ma, Mark Thomas Vander Lugt, John J LiPuma, Alyssa R Letourneau, Janine R Daub, Anahita Agharahimi, Annalie Harris, Lavenda Chirombo Kluczynski, Lindsey B Rosen, Howard M Lederman, Mary Elizabeth M Younger, Elias T Zambidis, Maura Manion, Luxin Pei, Irini Sereti, Morgan N Similuk, Danielle Fink, Debra A Long Priel, John I Gallin, Douglas B Kuhns, Adrian M Zelazny, Gulbu Uzel, Amy P Hsu, Christa S Zerbe, Alexandra F Freeman, Steven M HollandAbstract
Disseminated nontuberculous mycobacterial disease is a severe complication of NEMO (IKBKG) and IκBα (NFKBIA) defects. It may present in adulthood, and diagnosis was often delayed. Despite intensive multidrug therapy and adjunctive IFN-γ, treatment responses were frequently inadequate. Hematopoietic cell transplantation may offer immune reconstitution but carries risks.