X-linked systemic autoinflammatory disease
Definition:
X-linked systemic autoinflammatory disease (SAIDX), also called NEMO deleted exon 5 autoinflammatory syndrome (NDAS), is a pediatric autoinflammatory syndrome caused by X-linked IKBKG germline mutations that lead to overexpression of a NEMO protein isoform. Patients with SAIDX present with uveitis, predominantly lymphohistiocytic panniculitis, hepatitis, and a striking lack of severe or recurrent infections.
References:
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[1]. Adriana A de Jesus, et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest. 2020 Apr 1;130(4):1669-1682. [Content Brief]
[2]. Younglang Lee, et al. Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype. J Clin Invest. 2022 Mar 15;132(6):e128808. [Content Brief]
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