自體發炎性徵候群(Autoinflammatory syndrome)

蔡呈芳醫師

自體發炎性徵候群(Autoinflammatory syndrome)一辭是Kastner & O'Shea所提出，是指在無自體抗體、免疫缺乏、外在抗原或感染的情況下，出現反覆發燒、及其他器官發炎現象，常見侵犯部位如關節、眼睛、腸道，主要包括以下類別，但也有人將Behcet disease、Crohn disease、Schnitzler syndrome、aldult onset Still disease 列入，因為患者血interleukin (IL)-1beta、IL-18及TNF-alpha均有增加現象。在機轉上，IL-1 family (IL-1 F~11)及ＴＬＲ有共有的T cell-IL-1 receptor domain  

DIRA (deficiency of IL-1 receptor antogonist)(N Engl J Med. 2009 Jun 4;360(23):2426-37.)

Generalized pustular psoriasis (defiency of IL36 receptor antagonist)

Familial Mediterranean fever (FMF)
Tumor necrosis factor (TNF) receptor–associated periodic syndrome (TRAPS)
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Familial cold autoinflammatory syndrome (FCAS)/familial cold urticaria syndrome (FCUS)
Muckle-Wells syndrome (MWS)
Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome
Blau syndrome
PAPA (Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne) syndrome
PASH  (pyoderma gangrenosum, acne, and suppurative hidradenitis)

Chronic recurrent multifocal osteomyelitis (CRMO) (Mageed syndrome)

perforin mutations (familial hemophagocytic lymphohistiocytosis)

macrophage activation syndrome

infection-associated hemophagocytic syndrome

自體發炎性徵候群屬於固有免疫力(先天性免疫)調節缺陷，但患者往往被當成自體免疫疾病、感染或癌症，治療上包括colchicine, etanercept, steroid及anakinra