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A strange fever in two brothers


The Hyper Immunoglobulin D and period fever syndrome (HIGD), one of hereditary auto-inflammatory syndromes, is caused by mutations in the gene coding for Mevalonate kinase. This autosomal recessive disease is never reported in siblings.

Case report

A 5 year-old boy was admitted to the hospital for limping and periodic fever. His family medical history was remarkable for the same symptoms in his brother (3 years old). Their medical history started at the age of three months in both cases, after the first vaccination, with monthly periodic fever associated with laterocervical and submandibular lymphadenopathy, severe abdominal pains with vomit and diarrhea and maculo-papular rash. The duration of fever was 3–6 days (40°C).

On physical examination

laterocervical lymphadenopathy, maculo-papular rash and arthritis with swollen on right knee.

Blood tests

neutrophil leukocytosis (WC 15000 mmc, N 82%). ESR, CRP, IgA and Serum Amyloid A levels were elevated. Additional investigations included IgD and autoantibody pattern and were unremarkable.

Based on clinical history and symptoms of hereditary autoinflammatory syndromes, we looked for the mutations of mevalonate kinase (MKD) in both siblings.


We found a deletion, on chromosome 12: compound heterozygous for I268T e V377I mutations. Thus a diagnosis of "Hyper IgD Syndrome (HIGD)" was made.

We controlled the disease in both with colchicine (1 mg/day). The peculiarity of our case report is the presence of a rarely periodic fever in two brothers, never reported.


  1. D'Osualdo A: MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. European Journal of Human Genetics. 2005, 13 (3): 314-20. 10.1038/sj.ejhg.5201323.

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Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution 2.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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La Torre, F., Vitale, A. & Calcagno, G. A strange fever in two brothers. Pediatr Rheumatol 6 (Suppl 1), P202 (2008).

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