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

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 t...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: von Bernuth, Horst, Ravindran, Ethiraj, Du, Hang, Fröhler, Sebastian, Strehl, Karoline, Krämer, Nadine, Issa-Jahns, Lina, Amulic, Borko, Ninnemann, Olaf, Xiao, Mei-Sheng, Eirich, Katharina, Kölsch, Uwe, Hauptmann, Kathrin, John, Rainer, Schindler, Detlev, Wahn, Volker, Chen, Wei, Kaindl, Angela M
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Letter to the Editor
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4230835/
https://ncbi.nlm.nih.gov/pubmed/25330735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0116-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados