Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review.
Kohn LL et al.
Pediatric Dermatology, 2022
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Miot C et al.
Blood, 2017
Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.
Zilberman-Rudenko J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome.
Cheng LE et al.
Clinical Immunology (orlando, Fla.), 2009
Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey.
Huppmann AR et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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