Diseases
Each disease page is a deep, evidence-linked reference built from published research. More diseases are added based on community requests.
Adult-Onset Still's Disease
Adult-onset Still's disease (AOSD) is a rare systemic autoinflammatory disorder characterized by the classic triad of quotidian (daily) spiking fevers, salmon-colored evanescent rash, and arthritis or arthralgia.
Chronic Rhinosinusitis with Nasal Polyps
Chronic rhinosinusitis with nasal polyps (CRSwNP) is a chronic inflammatory disease of the sinonasal mucosa characterised by bilateral polyp growth, persistent nasal obstruction, anosmia, and impaired quality of life.
Cryopyrin-Associated Periodic Syndromes
Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of rare, inherited autoinflammatory disorders caused by gain-of-function mutations in the NLRP3 gene encoding cryopyrin.
Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide, caused by gain-of-function mutations in the MEFV gene encoding pyrin.
Hypocomplementemic Urticarial Vasculitis Syndrome
Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare immune complex-mediated small vessel vasculitis characterised by chronic urticaria lasting >6 months, persistent hypocomplementemia (low C1q, C3, C4), and leukocytoclastic vasculitis on skin biopsy.
POEMS Syndrome
POEMS syndrome is a rare paraneoplastic disorder caused by an underlying clonal plasma cell neoplasm.
Schnitzler Syndrome
Rare acquired autoinflammatory disorder characterised by chronic urticarial rash with monoclonal IgM gammopathy and systemic inflammation.
Systemic Mastocytosis
Systemic mastocytosis is a clonal hematologic neoplasm characterized by abnormal proliferation and accumulation of neoplastic mast cells in one or more extracutaneous organs, primarily the bone marrow.
TNF Receptor-Associated Periodic Syndrome
TNF Receptor-Associated Periodic Syndrome (TRAPS) is the most common autosomal dominant autoinflammatory disease, caused by heterozygous mutations in the TNFRSF1A gene encoding the type 1 TNF receptor (TNFR1).
Waldenström's Macroglobulinemia
Waldenström's macroglobulinemia is an indolent B-cell lymphoproliferative disorder characterised by bone marrow infiltration with clonal lymphoplasmacytic cells that secrete monoclonal IgM.