Abstract
Peripheral Myelin Protein 22 (PMP22) is mostly expressed in Schwann cells where it is essential in the compaction of myelin. The duplication of the PMP22 gene results in a hereditary demyelinating neuropathy of the Charcot–Marie–Tooth type 1A (CMT1A). So far there are only a few case reports suggesting that dysimmune mechanisms may take part in the pathophysiology of this disease. We describe three siblings carrying the duplication of the PMP22 gene, with a significant reduction of serum immunoglobulin G levels in all three cases and sural nerve vasculitis in the two women, which supports the proposition, that immune dysfunction may accompany this disease in some cases.
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Acknowledgments
The authors would like to thank Györgyi Bathori and Marianna Marko for their excellent technical help.
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Responsible Editor: G. Geisslinger.
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Pál, Z., Kiss, E., Gál, A. et al. Genetically determined neuropathy (CMT 1A) accompanied by immune dysfunction: a case report. Inflamm. Res. 58, 359–361 (2009). https://doi.org/10.1007/s00011-009-0025-7
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DOI: https://doi.org/10.1007/s00011-009-0025-7