| 1 | EDAID, IKBKG, OLEDAID
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| New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
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| Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, Belani K, Bodemer C, Fabre I, Plebani A, Boisson-Dupuis S, Picard C, Fischer A, Israel A, Abel L, Veron M, Casanova JL, Agou F, Bustamante J.
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| Blood 118(4):926-35. Epub 2011 May 26. 2011
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| 2 | IKBKG, IP2, OLEDAID, EDAID
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| Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
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| Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV.
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| Hum Mutat 29(5):595-604. 2008
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| 3 | IP2, IKBKG, OLEDAID
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| The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
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| Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Doffinger R, Bonnet M, Filipe-Santos O, Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL.
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| Am J Hum Genet 78(4):691-701. Epub 2006 Feb 15. 2006
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| 4 | IKBKG, OLEDAID
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| X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.
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| Nishikomori R, Akutagawa H, Maruyama K, Nakata-Hizume M, Ohmori K, Mizuno K, Yachie A, Yasumi T, Kusunoki T, Heike T, Nakahata T.
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| Blood 103(12):4565-72. Epub 2004 Jan 15. 2004
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| 5 | EDAID, IKBKG, OLEDAID
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| X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
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| Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israel A, Courtois G, Casanova JL.
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| Nat Genet 27(3):277-85. 2001
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