Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterised by neurodegenerative symptoms, skin manifestations, immune deficiency and increased susceptibility to cancer.
27AT(16F/11M) patients were collected for their demographic, clinical and laboratory data.
27 patients were diagnosed with ataxia telangiectasia according to ESID registry diagnostic criteria. The current mean age was 10.9±6,3 years. Seventeen (60.7%) of patients were female, 11(39.3%) were male. The mean age at diagnosis was 3.5±3 years. Nine (33.3%) patients were on IVIG replacement therapy, 11 (%40.7) received antibiotic prophylaxis. Median absolute lymphocyte count (ALC) of patients was 1900/mm3(600-9800). Immunoglobulin levels were as follows: low IgG in 3 (%12), normal IgG in 19 (%76) and elevated in 3(%12), low IgA in 22 (%88), low IgM in 1 patient, normal IgM in 19(%76) and elevated IgM in 5(%20). Malignancy developed in 2 (7.4%) of the patients. One of the female patients diagnosed with disgerminoma at age of 17, the other was diagnosed with T cell lymphoma at age of 5. One mother of AT patient developed breast cancer and was treated accordingly.
| IgG(mg/dl) | 1230(94-2250) |
| IgA(mg/dl) | 11,5(5-199) |
| IgM(mg/dl) | 249(20-1060) |
| AFP(mg/dl) | 111(26,7-721) |
| ALC(#/mm3) | 1900(600-9800) |
| ANC(#/mm3) | 3600(500-10700) |
| CD3% | 54,8(15-82) |
| CD3(#/mm3) | 1032(263-6860) |
| CD3CD4% | 28(3-52) |
| CD3CD4(#/mm3) | 499(115-5096) |
| CD3CD8% | 22,1(9-42,4) |
| CD3CD8 (#/mm3) | 446(87-1666) |
| CD19% | 5,2(0,3-59) |
| RTE% | 7,9(0,3-59) |
Ataxia-telangiectasia is a complex DNA repair disease, causing various clinical phenotypes, immune deficiency, malignancies, hypotonia and ataxia. Some patients may even be diagnosed with immunological abnormalities before the progression of neurological symptoms. AT patients and parents should be regularly monitored for malignancy development in the follow-up.