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 ZBTB24 gene mutation (c.1222 T>G, p. (Cys408Gly))...

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Publicado en:Diseases
Autores principales: Sogkas, Georgios, Dubrowinskaja, Natalia, Bergmann, Anke K., Lentes, Jana, Ripperger, Tim, Fedchenko, Mykola, Ernst, Diana, Jablonka, Alexandra, Geffers, Robert, Baumann, Ulrich, Schmidt, Reinhold E., Atschekzei, Faranaz
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2019
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6631482/
https://ncbi.nlm.nih.gov/pubmed/30987377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diseases7020034
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