Arch Iran Med. 2019;22(12): 682-686.
PMID: 31823618
Scopus ID: 85076357715
  Abstract View: 2184
  PDF Download: 1730

Original Article

Clinical Presentation of Ataxia-Telangiectasia

Soheila Alyasin 1,2, Hossein Esmaeilzadeh 1,2*, Narjes Ebrahimi 1, Seyed Hesamodin Nabavizadeh 1,2, Hamid Nemati 3

1 Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
2 Department of Allergy and Clinical Immunology, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran
3 Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
*Corresponding Author: Email: esmailzadeh_ho@yahoo.com


Background: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological features.

Methods: We report a case series of 18 patients diagnosed with ataxia-telangiectasia, who were referred to a tertiary center of clinical immunology from 2008–2018. Clinical presentations, medical records and lab data were observed during this period with a mean follow-up time of 4.57 ± 2.66 years.

Results: The mean age of the patients was 10.92 ± 3.24 years (11 females and 7 males). Thirteen patients (72.22%) were from families with consanguinity. Ataxia was the most common clinical feature, observed in 18 (100%) patients. The predominant clinical presentations were tremor and oculocutaneous telangiectasia, observed in 14 (77.8%) patients; dysarthria and oculomotor apraxia, observed in 13 (72.2%) patients. Infections were recorded in 12 (70.6%) patients. Decreased IgG level and IgA levels were observed in 5 (33.3%) and 6 (40.0%) patients, respectively. Decreased B-cell number and T-cell number were noted in 7 (46.67%) and 11 (73.33%) patients, respectively. Three (16.7%) patients were diagnosed with acute lymphoblastic leukemia and two of them expired subsequently.

Conclusion: Ataxia-telangiectasia is a progressive disease with no established therapy; so, it necessitates early diagnosis and follow-up of the patients. The presented clinical and immunological data in this study may help with diagnosis and management of the disease complications.

First Name
Last Name
Email Address
Security code

Abstract View: 2185

Your browser does not support the canvas element.

PDF Download: 1730

Your browser does not support the canvas element.

Submitted: 26 Sep 2018
Accepted: 16 Apr 2019
ePublished: 01 Dec 2019
EndNote EndNote

(Enw Format - Win & Mac)

BibTeX BibTeX

(Bib Format - Win & Mac)

Bookends Bookends

(Ris Format - Mac only)

EasyBib EasyBib

(Ris Format - Win & Mac)

Medlars Medlars

(Txt Format - Win & Mac)

Mendeley Web Mendeley Web
Mendeley Mendeley

(Ris Format - Win & Mac)

Papers Papers

(Ris Format - Win & Mac)

ProCite ProCite

(Ris Format - Win & Mac)

Reference Manager Reference Manager

(Ris Format - Win only)

Refworks Refworks

(Refworks Format - Win & Mac)

Zotero Zotero

(Ris Format - Firefox Plugin)