Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
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- The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combined immune defect throughout the disease course as well as putative autoimmune phenomena such as granulomatous hepatitis and nephritis. We alsoThe autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combined immune defect throughout the disease course as well as putative autoimmune phenomena such as granulomatous hepatitis and nephritis. We also demonstrate impaired cell-proliferation and increased cell death of immune and non-immune cells as well as data suggesting a chromosome separation defect in addition to the known chromosome condensation defect.…
Autor(en): | Horst von Bernuth, Ethiraj Ravindran, Hang Du, Sebastian Froehler, Karoline Strehl, Nadine Kraemer, Lina Issa-Jahns, Borko Amulic, Olaf Ninnemann, Mei-Sheng Xiao, Katharina Eirich, Uwe Koelsch, Kathrin Hauptmann, Rainer John, Detlev Schindler, Volker Wahn, Wei Chen, Angela M. Kaindl |
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URN: | urn:nbn:de:bvb:20-opus-114859 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Institut für Humangenetik |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | Orphanet Journal of Rare Dieeases |
Erscheinungsjahr: | 2014 |
Band / Jahrgang: | 9 |
Seitenangabe: | 116 |
Originalveröffentlichung / Quelle: | Orphanet Journal of Rare Diseases 2014, 9:116. DOI; http://www.ojrd.com/content/9/1/116 |
DOI: | https://doi.org/10.1186/s13023-014-0116-6 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Freie Schlagwort(e): | DNA methyltransferase gene; DNMT3B; ICF2; TYPE-2; ZBTB24; ZBTB24 mutations; centromeric instability; facial anomalies; granulomas; immunodeficiency; intellectual disability; lymphoma; microcephaly |
Datum der Freischaltung: | 10.07.2015 |
Lizenz (Deutsch): | CC BY: Creative-Commons-Lizenz: Namensnennung |