Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2)

Immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2) is a rare autosomal recessive primary immunodeficiency disorder. So far, 27 patients have been reported. Here, we present three siblings with ICF2 due to a homozygous <i>ZBTB24</i> gene mutation (c.1222 T&gt;G, p. (Cys4...

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Bibliografische Detailangaben

Hauptverfasser:	Georgios Sogkas, Natalia Dubrowinskaja, Anke K. Bergmann, Jana Lentes, Tim Ripperger, Mykola Fedchenko, Diana Ernst, Alexandra Jablonka, Robert Geffers, Ulrich Baumann, Reinhold E. Schmidt, Faranaz Atschekzei
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2019-04-01
Schriftenreihe:	Diseases
Schlagworte:	ICF syndrome B cell immunodeficiency T cell immunodeficiency combined immunodeficiency ICF2 ZBTB24
Online-Zugang:	https://www.mdpi.com/2079-9721/7/2/34
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