Review Article, J Genet Disor Genet Rep Vol: 2 Issue: 2
Comprehensive Review of Rare Hereditary Autoinflammatory Disorders
Nobuo Kanazawa* |
1Department of Dermatology, Wakayama Medical University, Wakayama 641- 0012, Japan |
Corresponding author : Dr. Nobuo Kanazawa Department of Dermatology, Wakayama Medical University, Wakayama 641-0012, Japan Tel: +81 73 441 0661; Fax: +81 73 448 1908 E-mail: nkanazaw@wakayama-med.ac.jp |
Received: August 08, 2013 Accepted: October 21, 2013 Published: October 28, 2013 |
Citation: Kanazawa N (2013) Comprehensive Review of Rare Hereditary Autoinflammatory Disorders. J Genet Disor Genet Rep 2:2. doi:10.4172/2327-5790.1000106 |
Abstract
Comprehensive Review of Rare Hereditary Autoinflammatory Disorders
Hereditary autoinflammatory syndromes are monogenic disorders with inborn errors of innate immunity, and include a variety of diseases in several clinical categories: 1) periodic fever syndromes such as familial Mediterranean fever (FMF), hyper IgD syndrome with periodic fever (HIDS), tumor necrosis factor receptor (TNFR)- associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndromes (CAPS); 2) pyogenic pustular diseases such as pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, deficiency for interleukin-1 receptor antagonist (DIRA) and deficiency for interleukin-36 receptor antagonist (DITRA); 3) granulomatous diseases such as Blau syndrome (BS) and early-onset sarcoidosis (EOS); and 4) newly-defined disorders categorized as autoinflammation, lipodystrophy and dermatoses (ALDD) syndrome.