1. OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN)
- Author
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Ming K. Lee, Sharon Zeligson, AA Rubinow, Dina Marek-Yagel, Sarah B. Pierce, Rachel E. Klevit, Mukamel M, Tom Walsh, Judith Barash, Reeval Segel, M-C King, Fatoş Yalçınkaya, Ozgur Kasapcopur, Liora Harel, EF Emirogullari, Ariella Weinberg-Shukron, Mustafa Tekin, Yackov Berkun, Shai Padeh, P. Renbaum, Joseph Press, Ephrat Levy-Lahad, P Elkan-Navon, Amihood Singer, Yair Anikster, Abraham Zlotogorski, Philip J. Hashkes, Elon Pras, and Mordechai Shohat
- Subjects
medicine.medical_specialty ,Pathology ,Autosomal recessive inheritance ,business.industry ,Cutaneous Polyarteritis Nodosa ,Polyarteritis nodosa ,Cutaneous PAN ,ADENOSINE DEAMINASE 2 ,Disease pathogenesis ,medicine.disease ,Rheumatology ,Internal medicine ,Pediatrics, Perinatology and Child Health ,Necrotizing Vasculitis ,Meeting Abstract ,Medicine ,Immunology and Allergy ,Pediatrics, Perinatology, and Child Health ,business - Abstract
Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis of middle-sized arteries, found in both adults and children. Disease pathogenesis is poorly understood. We identified multiple cases of systemic PAN and cutaneous PAN in families and individuals of Georgian-Jewish ancestry, consistent with autosomal recessive inheritance. While most cases (17/20) had childhood onset, cutaneous PAN could also initiate in middle age.
- Published
- 2013