A clinical update on inflammasomopathies

Sonmez H. E., ÖZEN S.

INTERNATIONAL IMMUNOLOGY, cilt.29, sa.9, ss.393-400, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 29 Sayı: 9
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1093/intimm/dxx020
  • Dergi Adı: INTERNATIONAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.393-400
  • Anahtar Kelimeler: autoinflammatory diseases, child, inflammasome, FAMILIAL MEDITERRANEAN FEVER, MEVALONATE KINASE-DEFICIENCY, COLCHICINE-RESISTANT, HYPERIMMUNOGLOBULINEMIA D, CAUSES AUTOINFLAMMATION, PYRIN INFLAMMASOME, PERIODIC FEVERS, NLRC4 CAUSES, CHILDREN, MUTATION
  • Kocaeli Üniversitesi Adresli: Hayır

Özet

Inflammasomes are important elements of the innate immune defense. The most common autoinflammatory syndromes, as well a number of rare ones, are due to hereditary defects in the inflammasomes, hence are called inflammasomopathies. The recent clinical advances in these diseases will be reviewed, with special emphasis on reflecting the international collaborative work in the field. Recent recommendations for familial Mediterranean fever, cryopyrin-associated periodic syndromes and hyper-IgD syndrome/mevalonate kinase deficiency will be presented and diagnostics tests, treatment alternatives and follow-up recommendations will be summarized. The other rare inflammasomopathies will be briefly discussed based on clinical features; these diseases are pyogenic arthritis, pyoderma gangrenosum and acne, NLRC4-related macrophage-activation syndrome of enterocolitis, mutations in NLRP12 that cause hereditary periodic fever syndromes (familial cold inflammatory syndrome 2) and NLRP1-associated autoinflammation with arthritis and dyskeratosis.