A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome
| Autor: | Şükrü Nail Güner, Pelin Ozyavuz Cubuk, Mehmet Halil Çeliksoy, Alisan Yildiran |
|---|---|
| Přispěvatelé: | Ondokuz Mayıs Üniversitesi |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Infertility
Male Pathology medicine.medical_specialty Cellular immunodeficiency Lymphohistiocytosis Hemophagocytic ataxia-telangiectasia hemophagocytic syndrome 03 medical and health sciences Ataxia Telangiectasia 0302 clinical medicine Pathognomonic medicine Humans 030212 general & internal medicine immunodeficieny business.industry Gene defect Chromosome Cancer Hematology medicine.disease Multisystem disease Oncology 030220 oncology & carcinogenesis Child Preschool Pediatrics Perinatology and Child Health Ataxia-telangiectasia business |
| Popis: | WOS: 000448391200014 PubMed: 29620677 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. |
| Databáze: | OpenAIRE |
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