OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN)
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OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN) E Levy-Lahad, P Elkan-Navon, R Segel, SB Pierce, T Walsh, J Barash, S Padeh, A Zlotogorski, YY Berkun, JJ Press, M Mukamel, PJ Hashkes, LL Harel, M Tekin, F Yalcinkaya, O Kasapcopur, EF Emirogullari, MK Lee, RE Klevit, PF Renbaum, A Weinberg-Shukron, S Zeligson, D Marek-Yagel, M Shohat, A Singer, E Pras, AA Rubinow, Y Anikster, M-C King
منابع مشابه
CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls
Question In Behçet’s disease (BD), vasculitis involving blood vessels of nearly all sizes and types may underlie the diverse tissue and organ involvement. Loss of function mutations in the CECR1 gene (encoding adenosine deaminase 2) have recently been shown to cause a recessive genetic disease, deficiency of adenine deaminase 2 (DADA2). Patients with DADA2 exhibit systemic vasculopathy characte...
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BACKGROUND Loss-of-function CECR1 mutations cause polyarteritis nodosa (PAN) with childhood onset, an autoinflammatory disorder without significant signs of autoimmunity. Herein we describe the unusual presentation of an autoimmune phenotype with constitutive type I interferon activation in siblings with adenosine deaminase 2 (ADA2) deficiency. CASE PRESENTATION We describe two siblings with ...
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IMPORTANCE Mutations in the CERC1 gene associated with deficiency in the ADA2 protein (DADA2) have been implicated in the pathogenesis of cutaneous polyarteritis nodosa (cPAN) and early-onset vasculopathy. DADA2 is not only limited to cPAN and vasculopathy but also includes immunodeficiency that affects several cellular compartments, including B cells; however, some patients appear to have a mo...
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BACKGROUND We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood. METHODS We performed whole-exome sequencing in the initial three patients and their unaffected pare...
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The deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease characterised by an early onset vasculopathy with livedoid skin rash associated with systemic manifestations, CNS involvement and mild immunodeficiency.This condition is secondary to autosomal recessive mutations of CECR1 (Cat Eye Syndrome Chromosome Region 1) gene, mapped to chromosome 22q11.1, that encodes for t...
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