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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 |
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1Research Center for Immunodefi
ciencies, Tehran University of Medical Sciences, Tehran,
Iran
2Department of Pediatrics, Pediatrics Center of
Excellence, Childrens 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 |
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Abstract |
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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
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