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Case Report ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Pediatr. | doi: 10.3389/fped.2019.00390

Vasculitis in a child with the hyper-IgM Variant of Ataxia-Telangiectasia

  • 1National Jewish Health (United States), United States
  • 2Rocky Mountain Hospital for Children, United States
  • 3The Ohio State University, United States

A subset of patients with Ataxia-Telangiectasia (A-T) have dramatically reduced levels of IgG, IgA, and IgE with retained or elevated IgM levels. Several reports suggest that these A-T patients with a “hyper-IgM phenotype” (HIgM) suffer more clinical immunologic consequences than other A-T patients. The immunopathologic mechanism driving this phenomenon is unknown, making it difficult to predict response to immunomodulatory therapy. We describe an A-T patient with HIgM who underwent tumor necrosis factor (TNF) receptor blockade for cutaneous granuloma and after several months of successful therapy developed non-malignant lymphoproliferation, cytopenia, and increased serum immunoglobulin levels. This process was subsequently followed by an immune-complex-mediated intrarenal small vessel vasculitis that led to renal failure. The vasculitis was successfully treated with rituximab and corticosteroids. This case underscores the importance of HIgM as an unfavorable prognostic indicator in A-T and highlights the complexity of immunomodulatory treatment in this population, and the potential for a successful approach tailored to the immune defect.

Keywords: Ataxia telangiectasia (A-T), Primary immuno deficiency, immune dysregulation (PIDD), Vasculitis, Cutaneous granuloma, TNF blockade, CD21 low

Received: 25 Apr 2019; Accepted: 10 Sep 2019.

Copyright: © 2019 Meyer, Banks, Nadasdy, Clark, Zheng, Gelfand and Abbott. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: MD. Jordan K. Abbott, National Jewish Health (United States), Denver, Colorado, United States,