Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

@article{NavonElkan2014MutantAD,
  title={Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.},
  author={Paulina Navon Elkan and Sarah B Pierce and Reeval Segel and Tom Walsh and Judith Barash and Shai Padeh and Abraham Zlotogorski and Yackov Berkun and Joseph Press and M. Mukamel and Isabel Voth and Philip J. Hashkes and Liora Harel and Vered Hoffer and Eduard Ling and Fatoş Yalçınkaya and Ozgur Kasapcopur and Ming K. Lee and Rachel E. Klevit and Paul Renbaum and Ariella Weinberg-Shukron and Elif Funda Sener and Barbara Schormair and Sharon Zeligson and Dina Marek-Yagel and Tim Matthias Strom and Mordechai Shohat and Amihood Singer and Alan Rubinow and Elon Pras and Juliane Winkelmann and Mustafa Tekin and Yair Anikster and Mary-Claire King and Ephrat Levy-Lahad},
  journal={The New England journal of medicine},
  year={2014},
  volume={370 10},
  pages={
          921-31
        }
}
BACKGROUND Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that is poorly understood. We identified six families with multiple cases of systemic and cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most cases, onset of the disease occurred during childhood. METHODS We carried out exome sequencing in persons from multiply affected families of Georgian Jewish or German ancestry. We performed targeted sequencing in additional… Expand
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ADA2 is expressed and secreted by monocytes and macrophages, but its biological function and the pathogenesis of DADA2 are uncertain and will remain an important area of research. Expand
Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.
TLDR
DADA2 should be considered in patients with cPAN, specifically in those whose conditions are diagnosed at an early age, regardless of their ethnicity, presence or absence of systemic symptoms, or a family history of the disease. Expand
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TLDR
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Monogenic polyarteritis: the lesson of ADA2 deficiency
TLDR
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, which suggests a role of this protein in the adaptive immune response. Expand
Diagnosis of deficiency of adenosine deaminase 2 with early onset polyarteritis nodosa in an adult patient with a novel compound heterozygous CECR1 mutation.
TLDR
A 30-year old patient who had suffered from recurrent ischaemic strokes and splenic, intestinal and renal infarction and diagnosed childhood onset PAN in accordance with the EULAR/PRINTO/PRES criteria is reported on. Expand
A Novel Variant of Adenosine Deaminase 2 Deficiency Presented With Chronic Thrombocytopenia, Anemia, and Early-Onset Stroke
TLDR
Screening for ADA2 pathogenic variants should be considered in the differential diagnosis of pediatric patients manifesting with chronic thrombocytopenia or early-onset stroke for an accurate diagnosis and appropriate treatment choices. Expand
A hereditary clue for the development of cutaneous polyarteritis nodosa in siblings
TLDR
Studies indicate that DADA2 could be considered a category of PAN, and novel diagnostic approaches should be taken for pediatric vasculitis including PAN, as no reliable CECR1 genetic analysis has been performed in PAN patients. Expand
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