Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency

Lancet. 2004 Jun 19;363(9426):2051-4. doi: 10.1016/S0140-6736(04)16457-X.

Abstract

Haemopoietic stem-cell transplantation is a life-saving treatment for severe combined immune deficiency. However, there has been little long-term follow-up of this treatment. There is evidence for the persistance of partial immunodeficiency associated with significant infections, including severe human papillomavirus (HPV) disease. We did a retrospective analysis of severe HPV disease in a group of 41 patients with severe combined immune deficiency from one centre who were alive 10 years or longer after haemopoietic stem-cell transplantation. Nine of the 41 patients had extensive chronic HPV disease limited to the skin, with a median onset at 8 years after transplantation. Four had lesions typical of epidermodysplasia verruciformis, a rare genodermatosis. Transplant characteristics, immune status, and chimerism of these nine patients did not differ significantly from those of the other patients. The nine patients with HPV disease had severe combined immune deficiency associated with either common gammac receptor cytokine subunit or Janus kinase-3 (JAK-3) deficiency. By contrast, patients with other forms of severe combined immune deficiency did not have any signs of HPV disease. That genetic causes are the only predisposing factor to be identified for severe combined immune deficiency, suggests that natural-killer cells or gammac/JAK-3-dependent signalling in keratinocytes could have a role in anti-HPV immunity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Epidermodysplasia Verruciformis / etiology
  • Female
  • Follow-Up Studies
  • Genotype
  • Hematopoietic Stem Cell Transplantation / adverse effects*
  • Humans
  • Interleukin Receptor Common gamma Subunit
  • Janus Kinase 3
  • Male
  • Papillomaviridae / genetics
  • Papillomavirus Infections / etiology*
  • Papillomavirus Infections / immunology
  • Papillomavirus Infections / pathology
  • Protein-Tyrosine Kinases / deficiency*
  • Receptors, Interleukin-7 / deficiency*
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / immunology
  • Severe Combined Immunodeficiency / therapy*
  • Skin Diseases, Viral / etiology*
  • Skin Diseases, Viral / immunology
  • Skin Diseases, Viral / pathology
  • Transplantation Chimera

Substances

  • IL2RG protein, human
  • Interleukin Receptor Common gamma Subunit
  • Receptors, Interleukin-7
  • Protein-Tyrosine Kinases
  • JAK3 protein, human
  • Janus Kinase 3