Autoinflammatory Diseases

Question · easy

A 14-year-old of Turkish descent has recurrent 2-day episodes of fever, severe abdominal pain with peritoneal signs, and painful red swelling over one ankle, resolving completely between attacks. His uncle died of renal failure attributed to amyloidosis. Which treatment prevents both attacks and the long-term renal complication?

Daily oral colchicine Anti-CD20 therapy (rituximab) Monthly intravenous immunoglobulin Oral methotrexate weekly

Question · medium

A patient with genetically confirmed TRAPS continues to have week-long febrile attacks with migratory myalgias and periorbital edema despite glucocorticoids. Which biologic strategy is most appropriate?

Infliximab (monoclonal anti-TNF antibody) Etanercept or an IL-1 inhibitor such as canakinumab Tocilizumab (anti-IL-6 receptor) Belimumab (anti-BAFF)

Question · medium

Which statement correctly pairs a cryopyrin-associated periodic syndrome (CAPS) phenotype with its defining feature?

NOMID/CINCA — chronic aseptic meningitis with deforming arthropathy from the neonatal period Muckle-Wells syndrome — cold-triggered urticaria-like rash only FCAS — progressive sensorineural hearing loss as the hallmark All three are caused by MEFV mutations and treated with colchicine

Question · hard

An infant has continuous urticarial rash, chronic meningitis, and a deforming arthropathy strongly consistent with NOMID, but targeted sequencing of NLRP3 from blood is negative. What is the best interpretation and next step?

This pattern indicates TRAPS; start etanercept About one-third of NOMID patients carry somatic mosaic NLRP3 mutations undetectable on standard blood testing; treat with IL-1 blockade and consider deep/tissue sequencing The negative test excludes CAPS; pursue an alternative diagnosis This pattern indicates HIDS; measure serum IgD and start canakinumab only if IgD is elevated

Question · hard

A 64-year-old man has relapsing polychondritis-like ear and nose inflammation, recurrent fevers, a Sweet-syndrome-like rash, progressive macrocytic anemia, and vacuoles in myeloid precursors on marrow biopsy. Which test establishes the unifying diagnosis?

TNFRSF1A mutation analysis Adenosine deaminase 2 enzyme activity assay Sequencing for somatic UBA1 mutations (VEXAS syndrome) Serum protein electrophoresis for an IgM-κ M-spike