Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Ektodermale Dysplasie mit Immundefekt

Die ektodermale Dysplasie mit Immundefekt ist eine x-chromosomal-rezessive oder autosomal dominante Erkrankung die durch Mutationen im IKBKG (Typ 1) oder NFKBIA-Gen (Typ 2) hervorgerufen wird. Sie ist zusätzlich durch eine Hypo- oder Anhidrose charakterisiert.

Gliederung

Erbliche Hauterkrankungen
Autoinflammation mit Arthritis und Dyskeratose
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
Dyschromatosis symmetrica hereditaria
Ektodermale Dysplasie mit Immundefekt
Ektodermale Dysplasie mit Immundefekt 1
IKBKG
Ektodermale Dysplasie mit Immundefekt 2
NFKBIA
Ektodermale Dysplasie-Immundefekt-Anhidrose-Lymphödem-Syndrom
IKBKG
Epidermolysis bullosa
Familiäre Acne inversa 1
Griscelli-Syndrom Typ 2
Hermansky-Pudlak-Syndrome 2
Incontinentia pigmenti
Interleukin 36-Rezeptor-Antagonist-Mangel
Interstitielle Lungenerkrankung mit nephrotischem Syndrom und Epidemiolysis bullosa
Keratosis linearis - Ichthyosis congenita - sklerosierendes Keratoderm
Neigung zu Vitiligo-assoziierter multipler Autoimmunerkrankung 1
Neonatale enzündliche Haut- und Darmerkrankung Typ 1
Nephropathie mit prätibialer epidermolysis bullosa und Schwerhörigkeit
Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom
Piebaldismus
Pityriasis rubra pilaris
Psoriasis 02
Psoriasis 14
Psoriasis 15
Pyoderma gangraenosum, Acne und Hidradenitis suppurativa (PASH)
Pyogene Arthritis - Pyoderma gangraenosum - Akne - 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.

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

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13.

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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14.

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

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15.

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

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16.

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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17.

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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18.

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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19.

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

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20.

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