Article
The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.
Clinical and experimental immunology - 1 Jul 2004
Stray-Pedersen A, Jónsson T, Heiberg A, Lindman C R, Widing E, Aaberge I S, Borresen-Dale A L, Abrahamsen T G
Abstract excerpt
Eleven Norwegian patients (aged 2-33 years, seven males and four females) with Ataxia-telangiectasia (A-T) and their parents were investigated. Five of the patients were homozygous for the same ATM mutation, 3245delATCinsTGAT, a Norwegian founder mutation. They had the lowest IgG2 levels; mean (95% confidence interval) 0.23 (0.05-0.41) g/l versus 0.91 (0.58-1.26) g/l in the other patients (P = 0.002). Among the...
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