Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome

A Aghamohammadi; K Imai; K Moazzami; H Abolhassani; M Tabatabaeiyan; N Parvaneh; R Nasiri Kalmarzi; N Nakagawa; K Oshima; O Ohara; S Nonoyama; N Rezaei

Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome

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

Authors

A Aghamohammadi¹, K Imai, K Moazzami, H Abolhassani, M Tabatabaeiyan, N Parvaneh, R Nasiri Kalmarzi, N Nakagawa, K Oshima, O Ohara, S Nonoyama, N Rezaei

Affiliation

¹ Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran. [email protected]

PMID: 20945614

Abstract

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, IgM levels could be considered a prognostic factor.

Publication types

Case Reports

MeSH terms

Ataxia Telangiectasia / complications
Ataxia Telangiectasia / diagnosis*
Ataxia Telangiectasia / drug therapy
Ataxia Telangiectasia / immunology
Ataxia Telangiectasia / physiopathology
Ataxia Telangiectasia Mutated Proteins
Cell Cycle Proteins / genetics*
Cell Cycle Proteins / metabolism
Child
Child, Preschool
Conjunctiva / pathology
DNA-Binding Proteins / genetics*
DNA-Binding Proteins / metabolism
Fatal Outcome
Female
Gait Disorders, Neurologic
Humans
Hyper-IgM Immunodeficiency Syndrome / complications
Hyper-IgM Immunodeficiency Syndrome / diagnosis*
Hyper-IgM Immunodeficiency Syndrome / drug therapy
Hyper-IgM Immunodeficiency Syndrome / immunology
Hyper-IgM Immunodeficiency Syndrome / physiopathology
Immunoglobulin M / biosynthesis
Immunoglobulin M / genetics
Immunoglobulin M / immunology
Immunosuppression Therapy
Mutation / genetics*
Prognosis
Protein Serine-Threonine Kinases / genetics*
Protein Serine-Threonine Kinases / metabolism
Recurrence
Respiratory Insufficiency
Respiratory Tract Infections / diagnosis*
Respiratory Tract Infections / drug therapy
Respiratory Tract Infections / etiology
Respiratory Tract Infections / immunology
Tumor Suppressor Proteins / genetics*
Tumor Suppressor Proteins / metabolism

Substances

Cell Cycle Proteins
DNA-Binding Proteins
Immunoglobulin M
Tumor Suppressor Proteins
ATM protein, human
Ataxia Telangiectasia Mutated Proteins
Protein Serine-Threonine Kinases