Poster Display DNA repair disorders

SEVERE EPSTEIN–BARR VIRUS INFECTION IN A CHILD WITH HYPER IGM- ATAXIA TELANGIECTASIA

Lecture Time
10:04 - 10:05
Presenter
  • Alenka Gagro, Croatia
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
69
Presentation Topic
DNA repair disorders

Abstract

Background and Aims

Patients with ataxia telangiectasia (AT) often show high copy numbers of Epstein-Barr virus (EBV) in their peripheral blood. This observation was supported by AT-animal model data that showed the role of AT-causing gene, ATM, for an optimal adaptive immune response against EBV. A sub-group of AT patients with elevated IgM levels have more severe phenotype and decreased survival compared to those with normal IgM. To the best of our knowledge, severe EBV infection has not been described in this sub-group of AT.

Methods

We describe a girl diagnosed with hyper IgM AT at the age of 3 years. At the time of diagnosis serum immunoglobulins were IgM 12.8, IgA <0.1, IgG <0.5 g/L, IgE < 2 kU/L. Blood EBV DNA level measured by PCR was negative as well as EBV immunoglobulin M antibody.

Results

Six months after the diagnosis, the patient developed fever, pancytopenia and hepatosplenomegaly. Blood PCR EBV level was 60100 copies/mL. Acyclovir did not control the symptoms and EBV DNA load. A treatment with rituximab was started with significant improvement of her symptoms. EBV PCR became negative 14 days after initiation of rituximab, and resolution of hepatosplenomegaly was observed during follow-up as well. Unfortunately, the later course of AT was complicated by cryptosporidiosis and severe bacterial infections despite regular immunoglobulin and antimicrobial treatment and the patient died at the age of 6 years.

Conclusions

This report broadens the previous knowledge that the sub-group of AT with hyper IgM is at risk of developing severe infections, including EBV.

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