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Case Reports
. 2018 Jun:191:44-51.
doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20.

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6

Clara Franco-Jarava  1 , Hongying Wang  2 , Andrea Martin-Nalda  3 , de la Sierra Daniel Alvarez  4 , Marina García-Prat  3 , Domingo Bodet  5 , Vicenç García-Patos  5 , Alberto Plaja  6 , Francesc Rudilla  7 , Victor Rodriguez-Sureda  8 , Laura García-Latorre  9 , Ivona Aksentijevich  2 , Roger Colobran  10 , Pere Soler-Palacín  11
Affiliations
Case Reports

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6

Clara Franco-Jarava et al. Clin Immunol. 2018 Jun.

Abstract

There is scarce literature about autoinflammation in syndromic patients. We describe a patient who, in addition to psychomotor and growth delay, presented with fevers, neutrophilic dermatosis, and recurrent orogenital ulcers. Comparative Genomic Hybridization (CGH) array permitted to identify a 13.13Mb deletion on chromosome 6, encompassing 53 genes, and including TNFAIP3 gene (A20). A20 is a potent inhibitor of the NF-kB signalling pathway and restricts inflammation via its deubiquitinase activity. Western blotting and immunoprecipitation assays showed decreased A20 expression and increased phosphorylation of p65 and IkBa. Patient's cells displayed increased levels of total K63-linked ubiquitin and increased levels of ubiquitinated RIP and NEMO after stimulation with TNF. We describe the molecular characterization of an autoinflammatory disease due to a large chromosomal deletion and review the phenotypes of patients with A20 haploinsufficiency. CGH arrays should be the first diagnostic method for comprehensive analysis of patients with syndromic features and immune dysregulation.

Keywords: Autoinflammatory diseases; Behçet’s disease; Chromosome deletion; Comparative Genomic Hybridization (CGH); Oral ulcer; TNFAIP3.

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