Immune deficiencies, infection, and systemic immune disordersMorbidity and mortality from ataxia-telangiectasia are associated with ATM genotype
Section snippets
Diagnosis
ATM was genotyped in patients with 3 or more of the following: ataxia, oculocutaneous telangiectasia, recurrent infections, low serum levels of IgA, high serum levels of α-fetoprotein (≥10-fold the upper limit of normal), or A-T karyotype abnormalities (≥4% of metaphase lymphocytes with translocations at 7p14, 7q35, 14q11, 14q32, 2p12, or 22q11, as described in 1982).8 When no blood samples were available from pediatric patients or their parents, making analysis of ATM impossible, A-T was
Diagnosis and sociodemographic characteristics
From June 2006 to September 2007, 242 diagnoses of A-T were confirmed according to the described diagnostic criteria; 240 patients born from 1954 to 2005 were enrolled in the cohort (2 patients declined to participate). A-T was diagnosed based on clinical, laboratory, and molecular criteria for 76.7% (184/240) of the patients and based on clinical and laboratory criteria for only 23.3% (56/240) of the patients. In the latter group, in addition to ataxia, 96.4% (54/56) of the patients presented
Discussion
We have associated morbidity and mortality from A-T with the type of mutation in ATM using data from 240 patients. Analysis of this cohort indicated that time to diagnosis decreased from 1954 to 2007, possibly because of increasing knowledge about the disease and the availability of karyotype analysis in 1982 and ATM sequence analysis in 1997. Despite these advances and the fact that patients are almost always given a diagnosis of A-T at teaching hospitals because of the rarity and complexity
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Cited by (0)
Supported by Sophie and Yves Ayache, CEREDIH (French National Reference Center for Primary Immunodeficiencies), and INCa (National Cancer Institute of France).
Disclosure of potential conflict of interest: A. Fischer receives research support from CEREDIH. The rest of the authors have declared that they have no conflict of interest.
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Romain Micol is currently affiliated with Transgene, Centre d’Infectiologie Lyon Biopôle, Lyon, France.