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Incontinentia Pigmenti France - maladie rare

The IP gene Print E-mail
vendredi, 01 décembre 2006


The ‘NEMO’ gene (NF-kappaB essential modulator) stimulates through a protein NF KappaB which is a major transcription factor ruling inflammatory, immune and apoptic ( mechanism of cell death) processes.
It explains the inflammatory characteristics of IP first skin lesions and the skin recovery when all the cells with the mutated gene have been destroyed.

Let’s try to make it simple: The NEMO gene  runs the elaboration of numerous proteins through the medium of  a manager  (NF KB) who sends specific messages to thousands of factories in order to produce those proteins that fight inflammation, infection and so on.
For more information see the description of IP in the part ‘Research’

The gene looks like a small train with its various carriages and compartments (1-2,3,4,5…….10…etc)

the Ip gene


The most frequent abnormality (85%) is the loss of compartments 4 to 10. It can be found in the cases of hereditary IP. 

le gène schematisé en petit train 2
 

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  « l’Assemblée Générale Ordinaire de l’association aura lieu le samedi 24 mars de 10h à 16h . Dans les locaux de l’Alliance Maladies Rares, Hôpital Broussais 96, rue Didot – 75014 Paris .Si vous désirez davantage d’informations, vous pouvez contacter Jacques Monnet au 04 78 35 96 32 Ou Véronique Douillet au 01 40 96 97 88 »