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JCI table of contents: Dec. 22, 2010
Date:12/22/2010

s the immune system. The most common cause of ALPS is mutations in the TNFRSF6 (also known as FAS) gene. If a person inherits two mutant TNFRSF6 genes they develop severe ALPS early in life. However, people who inherit only one mutant TNFRSF6 gene develop disease of variable severity, with some individuals showing no clinical sign of disease. A team of researchers, led by Frdric Rieux-Laucat, at INSERM U768, Hpital Necker-Enfants Malades, France, has now provided an explanation as to why individuals with only one mutant TNFRSF6 gene develop disease with varying characteristics individuals that develop more severe disease acquire, after birth, a mutation in their second TNFRSF6 gene. Importantly, this second genetic event was detectable only in a population of immune cells known as double negative T cells, which are normally rare but accumulate in individuals with ALPS. Thus, a second genetic hit can lead to severe disease onset.

In an accompanying commentary, Michael Lenardo and Bernice Lo, at the National Institutes of Health, Bethesda, discuss how these data expand the paradigm of two genetic hits causing disease, which is well known to oncologists, to the immunology setting.

TITLE: Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

AUTHOR CONTACT:
Frdric Rieux-Laucat
INSERM U768, Hpital Necker-Enfants Malades, Paris, France.
Phone: 33.0.144.495.082; Fax: 33.0.142.730.640; E-mail: frederic.rieux-laucat@inserm.fr.

View this article at: http://www.jci.org/articles/view/43752?key=69dee108c522c61cbb09

ACCOMPANYING COMMENTARY
TITLE: Gene defects in the soma: some get it and some don't!

AUTHOR CONTACT:
Michael J. Lenardo
National Institute of Allergy and Infectious Disease, NIH, Bethesda, Marylan
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Contact: Karen Honey
press_releases@the-jci.org
734-546-5242
Journal of Clinical Investigation
Source:Eurekalert

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