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Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia.
Front Pediatr 2019; 7:390FP

Abstract

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.

Authors+Show Affiliations

Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, United States.Rocky Mountain Hospital for Children, Denver, CO, United States.Department of Pathology, Ohio State University, Columbus, OH, United States.Rocky Mountain Hospital for Children, Denver, CO, United States.Rocky Mountain Hospital for Children, Denver, CO, United States.Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, United States.Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, United States.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31709200

Citation

Meyer, Anna K., et al. "Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia." Frontiers in Pediatrics, vol. 7, 2019, p. 390.
Meyer AK, Banks M, Nadasdy T, et al. Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia. Front Pediatr. 2019;7:390.
Meyer, A. K., Banks, M., Nadasdy, T., Clark, J. J., Zheng, R., Gelfand, E. W., & Abbott, J. K. (2019). Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia. Frontiers in Pediatrics, 7, p. 390. doi:10.3389/fped.2019.00390.
Meyer AK, et al. Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia. Front Pediatr. 2019;7:390. PubMed PMID: 31709200.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia. AU - Meyer,Anna K, AU - Banks,Mindy, AU - Nadasdy,Tibor, AU - Clark,Jennifer J, AU - Zheng,Rui, AU - Gelfand,Erwin W, AU - Abbott,Jordan K, Y1 - 2019/10/24/ PY - 2019/04/25/received PY - 2019/09/10/accepted PY - 2019/11/12/entrez PY - 2019/11/12/pubmed PY - 2019/11/12/medline KW - CD21lo KW - ataxia-telangiectasia KW - granuloma KW - hyper IgM KW - primary immunodeficiency KW - tumor necrosis factor KW - vasculitis SP - 390 EP - 390 JF - Frontiers in pediatrics JO - Front Pediatr VL - 7 N2 - 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. SN - 2296-2360 UR - https://www.unboundmedicine.com/medline/citation/31709200/Vasculitis_in_a_Child_With_the_Hyper-IgM_Variant_of_Ataxia-Telangiectasia L2 - https://doi.org/10.3389/fped.2019.00390 DB - PRIME DP - Unbound Medicine ER -