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Syndrom der zentromeren Instabilität mit Immundefizienz und Gesichtsfehlbildungen

Das ICF-Syndrom ist eine autosomal rezessive Immundeffizienz, die durch Mutationen im DNMT3B-Gen hervorgerufen wird.

Gliederung

Primärer Immundefekt
Achondroplasie-SCID-Syndrom
Autoinflammation, Antikörpermangel und Immundysregulations-Syndrom
Erbliche Infektionsanfälligkeiten
IRAK4-Mangel
Immundefekt 20
Immundefekt 21
Immundefekt 31A
Immundefekt 31B
Immundefekt 31C
Immundefekt 33
Immundefekt 38
Immundefekt 41
Immundefekt 69
Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerungs-Syndrom
Syndrom der zentromeren Instabilität mit Immundefizienz und Gesichtsfehlbildungen
DNMT3B
Variable Immunmangel Typ 7
Vaskulitis durch ADA2-Mangel
Wiskott-Aldrich-Syndrom
immunodeficiency_51

Referenzen:

1.

Hendrich B et al. (2001) Human diseases with underlying defects in chromatin structure and modification.

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2.

Smeets DF et al. (1994) ICF syndrome: a new case and review of the literature.

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3.

Jeanpierre M et al. (1993) An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome.

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4.

Gimelli G et al. (1993) ICF syndrome with variable expression in sibs.

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5.

Franceschini P et al. (1995) Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.

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6.

Thoraval D et al. (1996) Demethylation of repetitive DNA sequences in neuroblastoma.

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7.

Miniou P et al. (1997) alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues.

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8.

Sumner AT et al. (1998) A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.

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9.

Kondo T et al. (2000) Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

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10.

Hansen RS et al. (2000) Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant.

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11.

Wijmenga C et al. (1998) Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

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12.

De Ravel TJ et al. (2001) The ICF syndrome: new case and update.

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13.

Tao Q et al. (2002) Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells.

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14.

Kubota T et al. (2004) ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation.

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15.

Kloeckener-Gruissem B et al. (2005) A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.

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16.

Schuetz C et al. (2007) ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.

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17.

Hagleitner MM et al. (2008) Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

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18.

Jin B et al. (2008) DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.

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19.

Weemaes CM et al. (2013) Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

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20.

Thijssen PE et al. (2015) Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

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21.

Stacey M et al. (1995) FISH analysis on spontaneously arising micronuclei in the ICF syndrome.

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22.

Okano M et al. (1999) DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

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23.

Xu GL et al. (1999) Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

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24.

Wijmenga C et al. (2000) Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

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25.

Ehrlich M et al. (2001) DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

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26.

Bickmore WA et al. (2003) Perturbations of chromatin structure in human genetic disease: recent advances.

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27.

Jiang YL et al. (2005) DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

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28.

Tiepolo L et al. (1979) Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

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29.

Maraschio P et al. (1992) Interphase cytogenetics of the ICF syndrome.

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30.

Braegger C et al. (1991) Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.

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31.

None (1990) Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome--a virus-induced phenomenon?

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32.

Fasth A et al. () Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?

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33.

Turleau C et al. (1989) Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies.

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34.

Maraschio P et al. (1989) Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.

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35.

Maraschio P et al. (1988) Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

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36.

Valkova G et al. (1987) Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome.

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37.

Howard PJ et al. (1985) Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome.

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38.

Fryns JP et al. (1981) Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency.

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39.

Brown DC et al. (1995) ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome.

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40.

Sawyer JR et al. (1995) Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization.

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41.

Orphanet article

Orphanet ID 2268 external link
42.

OMIM.ORG article

Omim 242860 external link
Update: 14. August 2020
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