Hyper-IgD Syndrome

AT TIME OF ATTACKS

• 1) Elevated erythrocyte sedimentation rate and leukocytosis 2) Abrupt onset of fever (≥38.5°C) 3) Recurrent attacks 4) Lymphadenopathy (especially cervical) 5) Abdominal distress (e.g., vomiting, diarrhea, pain) 6) Skin manifestations (e.g., erythematous macules and papules) 7) Arthralgias and arthritis 8) Splenomegaly

CONSTANTLY PRESENT

• 1) Elevated IgD (above upper limit of normal) measured on 2 occasions at least 1 mo apart 2) Elevated IgA (≥2.6 g/L)

SPECIFIC FEATURES

• 1) Mutations in mevalonate kinase gene 2) Decreased mevalonate kinase enzyme activity