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Short report
Cowden's syndrome with immunodeficiency
  1. Michael J Browning1,
  2. Anita Chandra2,3,
  3. Valentina Carbonaro3,
  4. Klaus Okkenhaug3,
  5. Julian Barwell4
  1. 1Department of Immunology, Leicester Royal Infirmary, Leicester, UK
  2. 2Department of Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK
  3. 3Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Babraham, UK
  4. 4Department of Genetics, Leicester Royal Infirmary, Leicester, UK
  1. Correspondence to Dr Michael J Browning, Department of Immunology, UHL NHS Trust, Leicester Royal Infirmary Square, Leicester LE1 5WW,UK; mjb22{at}


Background Cowden's syndrome is a rare, autosomal dominant disease caused by mutations in the phosphoinositide 3-kinase and phosphatase and tensin homolog (PTEN) gene. It is associated with hamartomatous polyposis of the gastrointestinal tract, mucocutaneous lesions and increased risk of developing certain types of cancer. In addition to increased risk of tumour development, mutations in PTEN have also been associated with autoimmunity in both mice and humans. Until now, however, an association between Cowden's syndrome and immune deficiency has been reported in a single patient only.

Methods and results Two patients with Cowden's syndrome and an increased frequency of infections were investigated for possible underlying immunodeficiency. In one patient, hypogammaglobulinaemia with a functional antibody deficiency was identified, while the other patient had a persisting CD4+ T cell lymphopenia (with normal antibody production).

Conclusions Our data indicate that Cowden's syndrome may be associated with both T cell and B cell immune dysfunction. We recommend that patients with Cowden's syndrome and an increased frequency of infections are investigated for associated immunodeficiency.

  • Immunology (including allergy)
  • Infection
  • Genetics
  • Cell biology

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