Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Ektodermale Dysplasie mit Immundefekt 1

Die ektodermale Dysplasie mit Immundefekt Typ 1 ist eine x-chromosomal-rezessive Erkrankung die durch Mutationen im IKBKG-Gen hervorgerufen wird. Sie ist zusätzlich durch eine Hypo- oder Anhidrose charakterisiert.

Gliederung

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

Referenzen:

1.

Lie SO et al. (1978) Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome.

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2.

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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3.

Jain A et al. (2001) Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.

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4.

Döffinger R et al. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

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5.

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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6.

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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7.

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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8.

Boisson B et al. (2019) Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

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Update: 17. Oktober 2019