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Title: Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.
Author(s): Noordzij, J.G. ; Wulffraat, N.M.; Haraldsson, A.; Meyts, I.; Veer, L.J. van 't; Hogervorst, F.B.L.; Warris, A. ; Weemaes, C.M.R.
Publication year: 2009
Source: Archives of Disease in Childhood, vol. 94, iss. 6, (2009), pp. 448-449
ISSN: 0003-9888
DOI: https://doi.org/10.1136/adc.2008.149351
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/80305   http://hdl.handle.net/2066/80305

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Subject: N4i 4: Auto-immunity, transplantation and immunotherapy
Organization: Paediatrics
Journal title:
Archives of Disease in Childhood
Volume: vol. 94
Issue: iss. 6
Page start: p. 448
Page end: p. 449
Abstract:
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 alpha-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.

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