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Case Report


Ataxia-Telangiectasia in a Patient Presenting With Hyper-immunoglobulin M Syndrome


A Aghamohammadi,1,2 K Imai,3 K Moazzami,1 H Abolhassani,1 M Tabatabaeiyan,1 N Parvaneh,1,2 R Nasiri Kalmarzi,2 N Nakagawa,3 K Oshima,4 O Ohara,4,5 S Nonoyama,3 N Rezaei1,2,6

1Research Center for Immunodefi ciencies, Tehran University of Medical Sciences, Tehran, Iran
2Department of Pediatrics, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
3Department of Pediatrics, National Defense Medical College, Saitama, Japan
4Laboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Kanagawa, Japan
5Department of Human Genome Research, Kazusa DNA Research Institute, Chiba, Japan
6Molecular Immunology Research Center and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

J Investig Allergol Clin Immunol 2010; Vol. 20(5): 442-445



Ataxia-telangiectasia (AT) and hyper-immunoglobulin M (HIGM) syndrome are both primary immunodeficiency diseases caused by different genetic defects. While a small proportion of AT patients have increased serum immunoglobulin (Ig) M concentrations during the course of a disease, a high level of IgM at onset is rare.
We report the case of an 8-year-old girl who had experienced recurrent respiratory infection, cutaneous abscesses, and hepatosplenomegaly since the age of 2 years. She was diagnosed with HIGM based on the results of immunological studies, including low IgG and IgA levels and raised serum IgM concentrations. However, at the age of 4 years, a neurological examination revealed gait disturbance and telangiectatic lesions
on the conjunctiva; therefore, a diagnosis of AT was suggested. In spite of regular intravenous immunoglobulin infusions and antimicrobial prophylaxis, the patient experienced several episodes of respiratory infection and eventually died of respiratory failure at the age of 8 years. Further molecular analysis revealed a novel homozygous missense mutation in exon 53 (c.8250C>T, p.2622Ala>Val) of the ATM gene.
Patients with AT and the HIGM phenotype may not develop clinical characteristics of AT for some time. While patients with AT and increased serum IgM levels could have a considerably more severe disease course and a shorter survival, gM levels could be considered a prognostic factor.

Key words: Ataxia-telangiectasia. Hyper-IgM syndrome. Mutation. IgM