<scp>NEMO</scp> ‐ <scp>NDAS</scp> : Case Report and Review of the Literature
NEMO-deleted exon 5 autoinflammatory syndrome (NEMO-NDAS) is the result of a gain-of-function IKBKG pathogenic variant leading to dysregulated NF-κB signaling and systemic inflammation. We present a case of NEMO-NDAS in a 2-year-old female presenting with recurrent fevers, subcutaneous nodules, lymphadenopathy, and splenomegaly. This article highlights the symptoms that aid in diagnosis and how to differentiate it from other autoinflammatory diseases and reviews therapies for NEMO-NDAS.
Authors
- Joseph M. Lam (ORCID: https://orcid.org/0000-0001-7808-3369)
- Kristie Mar (ORCID: https://orcid.org/0000-0002-2482-8633)
- Antonio Torrelo (ORCID: https://orcid.org/0000-0002-5940-6916)
- Kimberly Morishita (ORCID: https://orcid.org/0000-0002-1389-4002)
- Kevin Meesters (ORCID: https://orcid.org/0000-0003-0666-3764)
- Angela Yang
Institutions
- University of British Columbia (CA)
- Hospital Infantil Universitario Niño Jesús (ES)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2026-03-11
- DOI
- https://doi.org/10.1111/pde.70199
- Primary Topic
- IgG4-Related and Inflammatory Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00