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A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM. Zonana J, et al. Among authors: ferguson bm. Am J Hum Genet. 2000 Dec;67(6):1555-62. doi: 10.1086/316914. Epub 2000 Oct 24. Am J Hum Genet. 2000. PMID: 11047757 Free PMC article.
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J. Schneider P, et al. Among authors: ferguson bm. J Biol Chem. 2001 Jun 1;276(22):18819-27. doi: 10.1074/jbc.M101280200. Epub 2001 Mar 14. J Biol Chem. 2001. PMID: 11279189 Free article.
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.
Orange JS, Brodeur SR, Jain A, Bonilla FA, Schneider LC, Kretschmer R, Nurko S, Rasmussen WL, Köhler JR, Gellis SE, Ferguson BM, Strominger JL, Zonana J, Ramesh N, Ballas ZK, Geha RS. Orange JS, et al. J Clin Invest. 2002 Jun;109(11):1501-9. doi: 10.1172/JCI14858. J Clin Invest. 2002. PMID: 12045264 Free PMC article.
889 results