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An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus

Authors :
Carbonella, Angela
Mancano, Giorgia
Gremese, Elisa
Alkuraya, F. S.
Patel, N.
Gurrieri, Fiorella
Ferraccioli, Gianfranco
Gremese, Elisa (ORCID:0000-0002-2248-1058)
Gurrieri, Fiorella (ORCID:0000-0002-6775-5972)
Ferraccioli, Gianfranco (ORCID:0000-0001-6246-2428)
Carbonella, Angela
Mancano, Giorgia
Gremese, Elisa
Alkuraya, F. S.
Patel, N.
Gurrieri, Fiorella
Ferraccioli, Gianfranco
Gremese, Elisa (ORCID:0000-0002-2248-1058)
Gurrieri, Fiorella (ORCID:0000-0002-6775-5972)
Ferraccioli, Gianfranco (ORCID:0000-0001-6246-2428)
Publication Year :
2017

Abstract

We describe the third family in the world, after Arabian and Turkish ones, displaying an autosomal recessive autoimmune disease (AID), mimicking systemic lupus erythematosus (SLE), with unusual manifestations due to a homozygous frame-shift variant in DNASE1L3. SLE is a complex AID characterized by multiple organ involvement. Genetic risk variants identified account for only 15% of SLE heritability. Rare Mendelian forms have been reported, including DNASE1L3-related SLE. Through specific genetic tests we identified a homozygous 2 bp-deletion c.289_290delAC (NM_004944.2) in DNASE1L3, predicting frameshift and premature truncation (p.Thr97Ilefs*2). The same mutation was previously reported in three sisters, born from consanguineous parents and affected with hypocomplementemic urticarial vasculitis syndrome (HUVS). As approximately 50% of individuals affected with HUVS develop SLE, it is still unclear whether it is a SLE sub-phenotype or a separate condition. Lupus (2016) 0, 1–5.

Details

Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1105027518
Document Type :
Electronic Resource