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.
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