Monoclonal Gammopathy in a Pediatric Patient with Ataxia-Telangectasia: A Case Report, Review of the Literature, and Preliminary Differential Diagnosis

Jones TE, Shurin MR and Wheeler SE

Department of Pathology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA
Division of Clinical Immunopathology, Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA

^*Correspondance to: Jones TE 

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Abstract:

Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder characterized by immunodeficiency and neurodegeneration. An additional consequence of mutations in the ATM gene is a predisposition to monoclonal and oligoclonal gammopathies, which are reported in 8% of A-T patients. They have been hypothesized to originate from exposure of lymphocytes to events causing double stranded DNA breaks, such as ionizing radiation. Persistence of these breaks, along with the abnormal thymic development and defective cell cycle regulation seen in A-T, has the potential to lead to clonal dysregulation of B cells and to gammopathies. Of gammopathies present in the pediatric population, etiologies vary from autoimmune disorders, hematologic malignancies, myelodysplasias, and renal and hepatic disorders. Herein we discuss the unusual case of a pediatric patient with A-T, IgA deficiency, and asthma, who was found to have a monoclonal gammopathy. Further studies did not reveal the presence of an underlying malignancy or autoimmune disorder but the patient will continue to be closely monitored.

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Cite the Article:

Jones TE, Shurin MR, Wheeler SE. Monoclonal Gammopathy in a Pediatric Patient with Ataxia-Telangectasia: A Case Report, Review of the Literature, and Preliminary Differential Diagnosis. Ann Clin Case Rep. 2018; 3: 1528.