Introduction
Ataxia-telangiectasia (A-T) is known as an uncommon autosomal recessive
disorder related to the nervous system which involves several systems.
It is described by telangiectases, immunodeficiency, ataxia,
radiosensitivity and susceptibility to hematologic malignancies (1). A-T
resulted from mutations in the ataxia-telangiectasia mutated
(ATM) gene (2, 3). A-T affects 1 or 2 per 100 000 subjects globally and
its prevalence in men is similar to women (4, 5). The morbidity of A-T
can be contributed to pulmonary disease, immune deficiency, and
dysphagia (2). Moreover, it is reported that various infections are
mainly responsible for its morbidity and mortality (6). ATM , a
checkpoint gene of the cell cycle, has a pivotal role in the
reconstruction of fractured DNA during B and T cell differentiation,
lymphocyte development, and support genetic status (7, 8). Furthermore,
changed ATM gene can lead to cancer such as lymphoma and breast
cancer (7, 9). In despite of there is not yet notable advance in the
treatment, the management of A-T complications can be useful (10).
Recent studies have reported some disorders in association with A-T, for
example, hyper immunoglobulin (HIgM) syndrome and dystonia (11) but
whether other disorders are associated with A-T is not clearly defined.
In addition, there are few studies about the association of the
inflammatory disease with A-T. The line with this, we evaluated a
pediatric patient with A-T for better diagnosis and subsequently for
better management of A-T.