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

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.

SUBMITTER: von Bernuth H

PROVIDER: S-EPMC4230835 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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

von Bernuth Horst H Ravindran Ethiraj E Du Hang H Fröhler Sebastian S Strehl Karoline K Krämer Nadine N Issa-Jahns Lina L Amulic Borko B Ninnemann Olaf O Xiao Mei-Sheng MS Eirich Katharina K Kölsch Uwe U Hauptmann Kathrin K John Rainer R Schindler Detlev D Wahn Volker V Chen Wei W Kaindl Angela M AM

Orphanet journal of rare diseases 20141021

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 granul ...[more]

PMID: 25330735

Dataset Information

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

Publications

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

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