Immunodeficiency without anhidrotic ectodermal dysplasia

Definition:

A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoietic origin and resulted in a heterogeneous mixture of mutant and wild-type cDNA species.

References:

[1]. G Courtois, et al. NF-kappaB-related genetic diseases. Cell Death Differ. 2006 May;13(5):843-51. [Content Brief]

[2]. Jordan S Orange, et al. Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol. 2004 Sep;114(3):650-6. [Content Brief]

[3]. Tim Niehues, et al. Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. J Allergy Clin Immunol. 2004 Dec;114(6):1456-62. [Content Brief]

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