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Items: 5

1.

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.

Lopez-Granados E, Keenan JE, Kinney MC, Leo H, Jain N, Ma CA, Quinones R, Gelfand EW, Jain A.

Hum Mutat. 2008 Jun;29(6):861-8. doi: 10.1002/humu.20740.

2.

Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.

McDonald DR, Mooster JL, Reddy M, Bawle E, Secord E, Geha RS.

J Allergy Clin Immunol. 2007 Oct;120(4):900-7.

PMID:
17931563
3.

Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency.

Dupuis-Girod S, Cancrini C, Le Deist F, Palma P, Bodemer C, Puel A, Livadiotti S, Picard C, Bossuyt X, Rossi P, Fischer A, Casanova JL.

Pediatrics. 2006 Jul;118(1):e205-11. Epub 2006 Jun 12.

PMID:
16769798
4.

The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.

Janssen R, van Wengen A, Hoeve MA, ten Dam M, van der Burg M, van Dongen J, van de Vosse E, van Tol M, Bredius R, Ottenhoff TH, Weemaes C, van Dissel JT, Lankester A.

J Exp Med. 2004 Sep 6;200(5):559-68. Epub 2004 Aug 30.

5.

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.

Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israël A, Munnich A, Le Deist F, Casanova JL.

J Clin Invest. 2003 Oct;112(7):1108-15.

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