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A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome

Celiksoy, Mehmet H., MD*; Ozyavuz Cubuk, Pelin, MD; Guner, Sukru N., MD*; Yildiran, Alisan, MD*

Journal of Pediatric Hematology/Oncology: November 2018 - Volume 40 - Issue 8 - p e547–e549
doi: 10.1097/MPH.0000000000001134
Online Articles: Clinical and Laboratory Observations

Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T–mutated protein, subsequently leading to unrepaired DNA fractures and defects in the signal transduction pathway. As a result, characteristic findings arise, including recurrent sinopulmonary infections, hypersensitivity against ionized radiation with the tendency to develop cancer related to progressive cerebellar ataxia, pathognomonic oculocutaneous telangiectasias, varying degrees of humoral and cellular immunodeficiency, and infertility. This case report presents a 3-year-old male patient with A-T who developed hemophagocytic syndrome. To the best of our knowledge, no such case has been previously reported.

*Department of Pediatric Allergy and Immunology, Faculty of Medicine, Ondokuz Mayis University, Samsun

Haseki Training and Research Hospital, Genetic Diseases Diagnosis Center, Istanbul, Turkey

The authors declare no conflict of interest.

Reprints: Mehmet H. Celiksoy, MD, Department of Pediatric Immunology-Allergy, Ondokuz Mayis University, School of Medicine, Samsun 55139, Turkey (e-mail:

Received June 13, 2017

Accepted November 24, 2017

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