Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Ektodermale Dysplasie mit Immundefekt 2

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.

Gliederung

Ektodermale Dysplasie mit Immundefekt
Ektodermale Dysplasie mit Immundefekt 1
Ektodermale Dysplasie mit Immundefekt 2
NFKBIA
Ektodermale Dysplasie-Immundefekt-Anhidrose-Lymphödem-Syndrom

Referenzen:

1.

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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2.

Janssen R et al. (2004) The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.

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3.

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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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.

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5.

Schimke LF et al. (2013) A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

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6.

Yoshioka T et al. (2013) Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.

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7.

Giancane G et al. (2013) Anhidrotic ectodermal dysplasia: a new mutation.

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8.

Lee AJ et al. (2016) Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.

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9.

Staples E et al. (2017) Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.

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10.

Boisson B et al. (2017) Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

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11.

Moriya K et al. (2018) IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.

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12.

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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Update: 17. Oktober 2019