SKRIVET: 2009-04-03, kl 20:11:39 | PUBLICERAT I: Allmänt
Litteratur Incontinentia Pigmenti
Cohen BA. Incontinentia Pigmenti. Neurocutaneous Dis 1987; 3: 361-376.
Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M et al. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 2003; 112: 983-985.
Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol 2008 Oct 11. [Epub ahead of print]
Heinesen-Esholdt I. Incontinentia pigmenti. Nordisk medicin 1994; 109: 58-60.
Holmström G, Thoren K. Ocular manifestations of incontinentia pigmenti.
Acta Ophthalmol Scand 2000; 78: 348-353.
Landy SJ, Donnai D. Incontinentia Pigmenti (Bloch-Sultzberger syndrome). J Med Genet 1993; 30: 53-59.
Mancini AJ, Lawley LP, Uzel G. X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. Arch Dermatol 2008; 144: 342-346.
The International Incontinentia Pigmenti (IP) Consortium. Genomic rearrangement in NEMO impairs NF-kappabeta activation and is a cause of incontinentia pigmenti. Nature 2000; 405: 466-472.