Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia

SGK Sze, HM Lederman, TO Crawford… - Journal of Pediatric …, 2021 - journals.lww.com
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder characterized by
progressive cerebellar degeneration that is typically diagnosed in early childhood. AT is …

[HTML][HTML] New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation

J Roohi, J Crowe, D Loredan… - Journal of human …, 2017 - nature.com
Ataxia-telangiectasia (AT) is an autosomal recessive chromosome breakage disorder
caused by mutations in the ATM gene. Typically, it presents in early childhood with …

Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant

B Bielorai, T Fisher, D Waldman… - Pediatric hematology …, 2013 - Taylor & Francis
Ataxia-telangiectasia (AT), an autosomal recessive disorder is characterized by progressive
neurodegeneration, immunodeficiency, sensitivity to ionizing radiation, and predisposition to …

Patient with ataxia telangiectasia who developed acute myeloid leukemia

A Brioli, S Parisi, I Iacobucci, M Cavo… - Leukemia & …, 2011 - Taylor & Francis
Ataxia telangiectasia (AT) is a progressive neurologic disorder that is inherited in an
autosomal recessive manner. It is characterized by ataxia of both upper and lower limbs …

Lymphoid malignancy as a presenting sign of ataxia-telangiectasia

DM Loeb, HM Lederman… - Journal of pediatric …, 2000 - journals.lww.com
Ataxia-telangiectasia (AT) is an uncommon genetic disorder characterized by cerebellar
ataxia, oculocutaneous telangiectasias, progressive immunodeficiency, and a predisposition …

Acute myeloid leukemia in a patient with ataxia-telangiectasia: a case report and review of the literature

N Viniou, E Terpos, J Rombos, G Vaiopoulos… - Leukemia, 2001 - nature.com
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebral
degeneration, immunodeficiency, cancer predisposition, radiation sensitivity and cell cycle …

1285 Malignancy in ataxia-telangiectasia: a scoping review

E Petley, S Alexander, S Ojha, W Whitehouse - 2021 - adc.bmj.com
Background Ataxia-telangiectasia (AT) is a rare autosomal recessive, multi-system,
neurodegenerative disease due to mutations in the ataxia-telangiectasia mutated (ATM) …

[HTML][HTML] Ataxia‑telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report

F Ye, W Chai, M Yang, M Xie… - … and clinical oncology, 2018 - spandidos-publications.com
Abstract Ataxia‑telangiectasia (A‑T) is an infrequent autosomal recessive disorder that
involves multiple systems and is characterized by progressive cerebellar ataxia …

Diagnosis of ataxia-telangiectasia: ATM mutations associated with cancer

M Mitsui, SA Nahas, HH Chun, RA Gatti - Cancer Diagnostics: Current and …, 2004 - Springer
Prior to cancer therapy, it should be determined whether an underlying hereditary disorder
might exist. A diagnosis of Ataxia-telangiectasia (AT) should be considered in every child …

An atypical presentation of ataxia telangiectasia in a school-aged boy secondary to an intronic mutation

O Scott, Y Dinur-Schejter, J Upton… - LymphoSign Journal, 2020 - lymphosign.com
Background: Ataxia telangiectasia typically presents in early pre-school years with
progressive cerebellar ataxia and oculocutaneous telangiectasias. Referral to Immunology …