PT  - JOURNAL ARTICLE
AU  - J G Noordzij
AU  - N M Wulffraat
AU  - Á Haraldsson
AU  - I Meyts
AU  - L J van’t Veer
AU  - F B L Hogervorst
AU  - A Warris
AU  - C M R Weemaes
TI  - Ataxia–telangiectasia patients presenting with hyper-IgM syndrome
AID  - 10.1136/adc.2008.149351
DP  - 2009 Jun 01
TA  - Archives of Disease in Childhood
PG  - 448--449
VI  - 94
IP  - 6
4099  - http://adc.bmj.com/content/94/6/448.short
4100  - http://adc.bmj.com/content/94/6/448.full
SO  - Arch Dis Child2009 Jun 01; 94
AB  - 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. 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 HIGM. The diagnosis A–T was confirmed by raised α-fetoprotein levels in all patients. To prevent mistaking A–T patients for HIGM it is proposed to add DNA repair disorders as a possible cause of HIGM.