Discovering genetic variants of monogenic systemic inflammatory disease
Rare, monogenic forms of systemic inflammatory rheumatic disease are increasingly recognized among patients diagnosed with systemic lupus erythematosus (SLE), autoinflammatory diseases (AIDs), systemic juvenile idiopathic arthritis (sJIA) and vasculitis. These conditions often result from abnormalities within the innate and adaptive immune systems, with a large spectrum of clinical manifestations. Autoinflammatory diseases represent a group of monogenic disorders of which the fever syndromes including familial Mediterranean fever (FMF), tumour necrosis factor-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency /hyper-immunoglobulin D syndrome (HIDS), and the cryopyrin associated periodic syndromes (CAPS) are the best-recognized. More recently vasculitis has also been recognized as a component of some monogenic autoinflammatory diseases. Without an accurate diagnosis, affected individuals may not be offered life-changing treatment. Furthermore, an early diagnosis is crucial to enable treatment initiation before irreversible organ damage occurs.
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Conditions de participation
-
Sexe:
Male, Female, Intersex -
Âges admissibles:
0 and up
Critères de participation
Inclusion Criteria:
i. Families with multiple affected (n≥2) first-degree relatives with suspected monogenic systemic inflammatory disease
ii. Evidence of consanguinity (including offspring of first-cousins or closer or evidenced by prior genetic tests)
iii. SLE, JDM, vasculitis with atypical young age of symptom onset, i.e. <10 years
iv. Secondary HLH patients.
v. Able to read, write, and speak English.
Exclusion Criteria:
Individuals and families who are not suspected to have a monogenic systemic inflammatory disease
Lieu de l'étude
University of Calgary
University of CalgaryCalgary, Alberta
Canada
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- Étude parrainée par
- University of Calgary
- Participants recherchés
- Plus d'informations
- ID de l'étude:
REB18-1299