Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)

Definition:

A rare X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which encodes the essential modulator of NF-kappa B.

References:

[1]. Andrea Del Fattore, et al. Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29. [Content Brief]

[2]. Marjorie Hubeau, et al. New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood. 2011 Jul 28;118(4):926-35. [Content Brief]

[3]. Pascal Brouillard, et al. Genetic causes of vascular malformations. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. [Content Brief]

[4]. Qing K Wang, et al. Update on the molecular genetics of vascular anomalies. Lymphat Res Biol. 2005;3(4):226-33. [Content Brief]

[5]. W Balemans, et al. A clinical and molecular overview of the human osteopetroses. Calcif Tissue Int. 2005 Nov;77(5):263-74. [Content Brief]

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