Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

Horst von Bernuth, Ethiraj Ravindran, Hang Du, Sebastian Fröhler, Karoline Strehl, Nadine Krämer, Lina Issa-Jahns, Borko Amulic, Olaf Ninnemann, Mei-Sheng Xiao, Katharina Eirich, Uwe Kölsch, Kathrin Hauptmann, Rainer John, Detlev Schindler, Volker Wahn, Wei Chen, Angela M Kaindl

Research output: Contribution to journalArticle (Academic Journal)

19 Citations (Scopus)

Abstract

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 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.

Original languageEnglish
Pages (from-to)116
JournalOrphanet Journal of Rare Diseases
Volume9
DOIs
Publication statusPublished - 21 Oct 2014

Keywords

  • Autoimmune Diseases
  • Centromere
  • Child
  • Chromosomal Instability
  • Chromosomes, Human
  • DNA Methylation
  • DNA Mutational Analysis
  • Disease Progression
  • Face
  • Female
  • Humans
  • Immunologic Deficiency Syndromes
  • Mutation
  • Phenotype
  • Repressor Proteins
  • Case Reports
  • Journal Article
  • Research Support, Non-U.S. Gov't

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    von Bernuth, H., Ravindran, E., Du, H., Fröhler, S., Strehl, K., Krämer, N., Issa-Jahns, L., Amulic, B., Ninnemann, O., Xiao, M-S., Eirich, K., Kölsch, U., Hauptmann, K., John, R., Schindler, D., Wahn, V., Chen, W., & Kaindl, A. M. (2014). Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2). Orphanet Journal of Rare Diseases, 9, 116. https://doi.org/10.1186/s13023-014-0116-6