Article Text

Download PDFPDF
Ataxia–telangiectasia patients presenting with hyper-IgM syndrome
  1. J G Noordzij1,
  2. N M Wulffraat2,
  3. Á Haraldsson3,
  4. I Meyts4,
  5. L J van’t Veer5,
  6. F B L Hogervorst5,
  7. A Warris6,
  8. C M R Weemaes6
  1. 1
    Department of Paediatrics, Reinier de Graaf Gasthuis, Delft, The Netherlands
  2. 2
    Department of Paediatric Immunology, Wilhelmina Children’s Hospital/University Medical Centre Utrecht, Utrecht, The Netherlands
  3. 3
    Children’s Hospital Iceland, Landspitali–University Hospital, Reykjavík, Iceland
  4. 4
    Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium
  5. 5
    Department of Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
  6. 6
    Department of Paediatric Infectious Diseases and Immunology and the Nijmegen University Centre of Infectious Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  1. Dr J G Noordzij, Department of Paediatrics, Reinier de Graaf Gasthuis, PO Box 5011, 2600 GA Delft, The Netherlands; j.noordzij{at}


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.

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • Competing interests: None.

  • Ethics approval: Obtained.