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Tendonitis in variant hyperimmunoglobulinaemia D and periodic fever syndrome—a rare disease with a new symptom

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Abstract

Hyperimmunoglobulinaemia D syndrome (HIDS) is defined as recurrent fever, generalised lymphadenitis, abdominal pain, arthritis and raised polyclonal serum IgD >100 IU/ml. The cause is a mutation in the mevalonate kinase gene. Other periodic fever syndromes are known. We report a new patient and describe orbital tendonitis as a hitherto unreported symptom Conclusion: Without any underlying cause, the tendonitis must be seen as new symptom of variant hyperimmunoglobulinaemia D syndrome. We speculate that the inflammation of the Tenon spatium is similar to the process of inflammation of the connective tissue in the joint in hyperimmunoglobulinaemia D syndrome where deposits of C3 and IgM are present. Variant hyperimmunoglobulinaemia D syndrome can be present in one family.

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Abbreviations

CINCA :

chronic infantile neurological cutaneous and articular syndrome

FCAS :

familial cold autoinflammatory syndrome

FMF :

familial Mediterranean fever

HIDS :

hyperimmunoglobulinaemia D syndrome

MK :

mevalonate kinase

MWS :

Muckle-Wells syndrome

TRAPS :

TNF-receptor associated periodic syndrome

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Acknowledgements

We are indebted to Dr. T. Wilson for her help in creating this manuscript.

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Correspondence to Sven Armbrust.

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Armbrust, S., Drenth, J.P.H., Schröder, C. et al. Tendonitis in variant hyperimmunoglobulinaemia D and periodic fever syndrome—a rare disease with a new symptom. Eur J Pediatr 164, 391–394 (2005). https://doi.org/10.1007/s00431-005-1652-9

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