遗传疾病和遗传报告杂志

Comprehensive Review of Rare Hereditary Autoinflammatory Disorders

Nobuo Kanazawa

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.