Die ektodermale Dysplasie mit Immundefekt Typ 2 ist eine autosomal dominante Erkrankung die durch Mutationen im NFKBIA-Gen hervorgerufen wird. Sie ist zusätzlich durch eine Hypo- oder Anhidrose charakterisiert. Das Immundefizit is vor allem T-Zell-bedingt.
Ektodermale Dysplasie mit Immundefekt | ||||
Ektodermale Dysplasie mit Immundefekt 1 | ||||
Ektodermale Dysplasie mit Immundefekt 2 | ||||
NFKBIA | ||||
Ektodermale Dysplasie-Immundefekt-Anhidrose-Lymphödem-Syndrom | ||||
1. |
Courtois G et al. (2003) A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. |
2. |
Janssen R et al. (2004) The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. |
3. |
McDonald DR et al. (2007) Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. |
4. |
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. |
5. |
Schimke LF et al. (2013) A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. |
7. |
Giancane G et al. (2013) Anhidrotic ectodermal dysplasia: a new mutation. |
8. |
Lee AJ et al. (2016) Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. |
9. |
Staples E et al. (2017) Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. |
10. |
Boisson B et al. (2017) Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. |
11. |
Moriya K et al. (2018) IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. |
12. |
Dupuis-Girod S et al. (2006) Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. |