Hyper-IgD Syndrome

Clinical and laboratory features of hyper-IgD syndrome (mevalonate kinase deficiency), a periodic fever 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

Source: From Firestein GS, Budd RC, Gabriel SE, et al, editors: Kelly & Firestein's textbook of rheumatology, ed 10, Philadelphia, 2016, Elsevier (Table 97-4, p 1674).

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