Genomics & Genetics Weekly
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Ataxia Telangiectasia
Studies from J.G. Noordzij and co-researchers update current data on ataxia telangiectasia
July 10th, 2009
"Ataxia-telangiectasia (A-T) is characterised by progressive neurological abnormalities, oculocutaneous telangiectasias and immunodeficiency (decreased serum IgG subclass and/or IgA levels and lymphopenia). However, 10% of A-T patients present with decreased serum IgG and IgA with normal or raised IgM levels," scientists in Netherlands report. "As cerebellar ataxia and oculocutaneous telangiectasias are not present at very young age, these patients are often erroneously diagnosed as hyper IgM syndrome (HIGM). Eight patients with A-T, showing serum Ig levels suggestive of HIGM on first presentation, are described. All had decreased numbers of T lymphocytes, unusual in...
Source: Genomics & Genetics Weekly (2009-07-10)
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