Preferred Label : NEMO Deleted Exon 5 Autoinflammatory Syndrome;
NCIt synonyms : NDAS;
NCIt related terms : IKBKG/NEMO NDAS;
NCIt definition : An autoinflammatory syndrome caused by either gain-of-function splice site variants
in the IKBKG gene resulting in a deletion in the C-terminal domain of the NEMO (NF-kappa-B
essential modulator) protein or by increased expression of an isoform lacking the
domain encoded by exon 5. It is clinically distinct from the immunodeficiency syndromes
caused by loss-of-function IKBKG mutations and has features more characteristic of
chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
(CANDLE).;
NCI Metathesaurus CUI : CL1642588;
Origin ID : C176752;
UMLS CUI : C5447415;
Semantic type(s)
- disease_mapped_to_gene
- related_to_genetic_biomarker
