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Human Genetics

, Volume 99, Issue 5, pp 677–680 | Cite as

B-cell-negative severe combined immunodeficiency associated with a common γ chain mutation

  • Alison M. Jones
  • Paula A. Clark
  • F. Katz
  • Sally Genet
  • Cathy McMahon
  • Lesley Alterman
  • Andrew Cant
  • C. Kinnon
Original investigation

Abstract

Severe combined immunodeficiency (SCID) is caused by a variety of underlying defects. Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B cell numbers. The gene responsible for SCIDX1 is that coding for the common γ chain (γc), a component of multiple cytokine receptors. Mutations in this gene have been demonstrated in a large number of boys affected by typical SCIDX1. We describe a sporadic case of a boy who had SCID with absent B cells and absent T cells, but in whom a mutation in the γc gene has been demonstrated. In the absence of a typical X-linked pedigree, the phenotype in this boy suggested an autosomal recessive form of SCID and the family would usually have been counselled accordingly. This family raises the question of the true frequency of SCIDX1 amongst sporadic male cases of SCID and highlights the need to screen these boys for γ chain mutations.

Keywords

Sporadic Case Cytokine Receptor Severe Combine Immunodeficiency Male Case Recessive Form 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Alison M. Jones
    • 1
  • Paula A. Clark
    • 1
  • F. Katz
    • 1
  • Sally Genet
    • 2
  • Cathy McMahon
    • 2
  • Lesley Alterman
    • 1
  • Andrew Cant
    • 3
  • C. Kinnon
    • 1
  1. 1.Molecular Immunology Unit, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK Tel.: +44-171-829-8892; Fax: +44-171-831-4366GB
  2. 2.Molecular Genetics Laboratory, Institute of Child Health, London, WC1N 1EH, UKGB
  3. 3.Department of Paediatric Immunology, Royal Victoria Infirmary, Newcastle-upon-Tyne, UKGB

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