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B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome

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Abstract

We report on two brothers with hyperimmunoglobulinemia D (patient 1: serum immunoglobulin D [IgD] concentration initially 61 IU/ml, later on 340 IU/ml; patient 2: serum IgD concentration 144 IU/ml; normal <100 IU/ml, 97th centile) and periodic fever syndrome (HIDS). Both are compound heterozygous for the mevalonate kinase (MVK) mutations V377I and I268T. They developed significant B cell cytopenia (7%, 129/µl and 11%, 132/µl, respectively; normal ranges 12–22%, 300–500/µl) with hypogammaglobulinemia (IgG 5.48 g/l and IgG 5.22 g/l, respectively; normal range IgG 6–13 g/l). Furthermore, the clinical spectrum shows an interesting atypical autoinflammatory symptomatology. The therapy consisted of prednisone, azathioprine, and intravenous immunoglobulins (IVIG), which results in reduced incidence and severity of febrile attacks. Conclusion: The pathogenesis and clinical presentation of HIDS is still not fully understood and show a great variability. To our knowledge, severe B cell cytopenia in children with HIDS has not been reported before. Furthermore, the therapy of febrile episodes is still performed on an individual basis in affected patients.

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Acknowledgment

We thank Doctor S. Stojanov and Professor B.H. Belohradsky (University Children’s Hospital, Ludwig-Maximilian’s-University, Munich, Germany) for performing the genetic analysis in the two patients.

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All authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Immunology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany

    M. Sornsakrin, K. Wenner & R. Ganschow

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  1. M. Sornsakrin
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  2. K. Wenner
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  3. R. Ganschow
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Correspondence to R. Ganschow.

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Sornsakrin, M., Wenner, K. & Ganschow, R. B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome. Eur J Pediatr 168, 825–831 (2009). https://doi.org/10.1007/s00431-008-0843-6

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  • DOI: https://doi.org/10.1007/s00431-008-0843-6

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