Ataxia-Telangiectasia in Iran: Clinical and Laboratory Features of 104 Patients

Moin, Mostafa; Aghamohammadi, Asghar; Kouhi, Ali; Tavassoli, Sanaz; Rezaei, Nima; Ghaffari, Saeed Reza; Gharagozlou, Mohammad; Movahedi, Masoud; Purpak, Zahra; Ghazi, Bahram Mirsaeid; Mahmoudi, Maryam; Farhoudi, A.

doi:10.1016/j.pediatrneurol.2007.03.002

Cited by 73 publications

(74 citation statements)

References 34 publications

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“…Consanguinity increases the risk, given its transmission by autosomal recessive inheritance (4). A total of 60% patients had a family history of consanguinity in this study group while it was 76% in an Iranian group which had similar geographical features (12).…”

Section: Discussionmentioning

confidence: 59%

Do Elevated Serum IgM Levels Have to Be Included in Probable Diagnosis Criteria of Patients with Ataxia-Telangiectasia?

Azarsız

Karaca

Gunaydin

et al. 2014

Int J Immunopathol Pharmacol

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Ataxia-telangiectasia (AT) is a rare multisystem, neurodegenerative genetic disorder that is characterised by progressive neurological abnormalities, oculocutaneous telangiectasias and immunodeficiency. Delay in diagnosis or misdiagnosis is probable due to its wide clinical heterogeneity in infancy. Recurrent sinopulmonary infections are often the only presenting symptom and usually patients have decreased immunoglobulins. A total 10% of patients who present with decreased serum immunoglobulin G and A and with normal or elevated immunoglobulin M levels are often misdiagnosed as hyperimmunoglobulin M syndrome. Definitive diagnosis is made if a patient with progressive cerebellar ataxia has a disease causing mutation on the ATM gene. Ataxia-telangiectasia guideline of the European Society for Immunodeficiencies defines the probable diagnosis criteria. We evaluated twenty ataxia-telangiectasia patients (mean age 13.8±4.1 years) retrospectively who were followed-up for a mean of 38.6±27.0 months. Twelve patients had a family history of consanguinity. A total of 80% patients suffered from various infections. Neoplasms occurred in three of them. Patients showed immunological abnormalities as low IgG (45%), low IgA(65%) and elevated IgM (60%) levels. CD3+CD4+T lymphocyte frequency was low in 45% patients. The mean AFP concentration at the diagnosis was 191.9±140.1 ng/ mL and the raised IgM values did not show any statistically significant relationship with high AFP concentrations. Frequency of the elevated IgM concentrations in (60%) patients raises the concerns about thinking this finding has to be accepted as a probable diagnosis criterium.

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Section: Discussionmentioning

confidence: 59%

Do Elevated Serum IgM Levels Have to Be Included in Probable Diagnosis Criteria of Patients with Ataxia-Telangiectasia?

Azarsız

Karaca

Gunaydin

et al. 2014

Int J Immunopathol Pharmacol

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“…Several retrospective case series (both published [8,15,20,22] and unpublished (S. Zielen, Dept of Allergology, Pneumology and Cystic Fibrosis, Children's Hospital, Goethe-University Theodor-Stern Kai, Frankfurt/Main, Germany; personal communication)) have shown a high prevalence of recurrent and chronic upper and lower RTI, the latter becoming more prevalent with increasing age. Definitions of recurrent infections did vary in these reports, e.g.…”

Section: Types Of Infectionsmentioning

confidence: 99%

“…Microbiology of lung disease in A-T Not all studies had microbiological confirmation of infection [9,10,12,22], and even when this was available, the nature of the samples obtained was heterogeneous (nasopharyngeal aspirate, throat swabs, cough swabs, sputum or bronchoalveolar lavage or serological confirmation on blood tests) [17,23,24]. Sputum microscopy and culture in children who can cough and produce sputum [23] and cough swabs in those who cannot [24] are usually carried out at each visit.…”

Section: Types Of Infectionsmentioning

confidence: 99%

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

et al. 2015

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Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting from dysfunctional swallowing due to neurodegenerative deficits; inefficient cough; and interstitial lung disease/pulmonary fibrosis. Malnutrition is a significant comorbidity. The increased radiosensitivity and increased risk of cancer should be borne in mind when requesting radiological investigations. Aggressive proactive monitoring and treatment of these various aspects of lung disease under multidisciplinary expertise in the experience of national multidisciplinary clinics internationally forms the basis of this statement on the management of lung disease in A-T. Neurological management is outwith the scope of this document.

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“…In general, Ataxiatelangiectasia (AT) is a multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, progressive immunodeficiency, ocular and cutaneoustelangiectasia, increased risk of lymphoreticular malignancy and hypersensitivity to ionizing radiation. (1,3,4)Telangiectasia can also appear on sun exposed areas of skin such as face and ears, occasionally arise in liver and lungs. …”

Section: Discussion:-mentioning

confidence: 99%