Ectodermal dysplasia and immunodeficiency 2 is an autosomal dominant or x-linked recessive disorder caused by mutations of the IKBKG (type 1) or NFKBIA (type 2) gene. Additionally it is characterized by hypo- or anhidrosis.
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Moriya K et al. (2018) IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. |
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Dupuis-Girod S et al. (2006) Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. |
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Boisson B et al. (2019) Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. |
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Singh A et al. (2009) Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency. |
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Ørstavik KH et al. (2006) Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. |
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Martinez-Pomar N et al. (2005) A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. |
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Döffinger R et al. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. |
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Jain A et al. (2001) Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. |
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Zonana J et al. (2000) 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). |
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Lie SO et al. (1978) Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. |
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Courtois G et al. (2003) A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. |
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Boisson B et al. (2017) Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. |
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Staples E et al. (2017) Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. |
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Lee AJ et al. (2016) Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. |
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Giancane G et al. (2013) Anhidrotic ectodermal dysplasia: a new mutation. |
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Schimke LF et al. (2013) A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. |
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Lopez-Granados E et al. (2008) A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. |
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McDonald DR et al. (2007) Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. |
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Janssen R et al. (2004) The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. |