Ataxia-telangiectasia patients presenting with hyper-IgM syndrome

J. G. Noordzij; N. M. Wulffraat; Á Haraldsson; I. Meyts; L. J. Van't Veer; F. B.L. Hogervorst; A. Warris; C. M.R. Weemaes

doi:10.1136/adc.2008.149351

Ataxia-telangiectasia patients presenting with hyper-IgM syndrome

J. G. Noordzij, N. M. Wulffraat, Á Haraldsson, I. Meyts, L. J. Van't Veer, F. B.L. Hogervorst, A. Warris, C. M.R. Weemaes

University of Iceland, Iceland, Landspitali - The National University Hospital of Iceland

Research output: Contribution to journal › Article › peer-review

46 Citations (Scopus)

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 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.

Original language	English
Pages (from-to)	448-449
Number of pages	2
Journal	Archives of Disease in Childhood
Volume	94
Issue number	6
DOIs	https://doi.org/10.1136/adc.2008.149351
Publication status	Published - Jun 2009

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title = "Ataxia-telangiectasia patients presenting with hyper-IgM syndrome",

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 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.",

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AU - Noordzij, J. G.

AU - Wulffraat, N. M.

AU - Haraldsson, Á

AU - Meyts, I.

AU - Van't Veer, L. J.

AU - Hogervorst, F. B.L.

AU - Warris, A.

AU - Weemaes, C. M.R.

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N2 - 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.

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.

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Ataxia-telangiectasia patients presenting with hyper-IgM syndrome

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