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D. Kuhns

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Open access Oct 2026

Disseminated Nontuberculous Mycobacterial Disease in NEMO and Iκbα Defects.

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...

Chen Wang, A. Rivera, David E. Kleiner et al. · 0 citations
Open access Aug 2026

Novel gain-of-function mutation in dysferlin causes vesicle trafficking defect and IL-1 mediated autoinflammation

Dysferlin is identified as a regulator of membrane homeostasis in myeloid cells, defective membrane-stress adaptation as trigger of NLRP3 inflammasome activation is established, and a novel IL-1 mediated autoinflammatory disease caused by gain-of-function DYSF mutations is defined.

Farzana Bhuyan, Clinton J. Bradfield, Amitava Roy et al. · 0 citations

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