Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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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: [email protected]
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.

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