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

Elisa Gremese, Angela Carbonella, Giorgia Mancano, Fiorella Gurrieri, Gianfranco Ferraccioli, F. S. Alkuraya, N. Patel

Risultato della ricerca: Contributo in rivistaArticolo in rivista

21 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)768-772
Numero di pagine5
RivistaLupus
Volume26
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • DNASE1L3
  • Systemic lupus erythematosus

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