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A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia

Idiopathic CD4 lymphopenia (ICL) is an immunodeficiency disorder of unclear etiology. Here we describe a heterozygous dominant-negative missense mutation (codon 22 GGC→GTC; V22G) of the signaling adaptor protein Uncoordinated 119 (Unc119) in an ICL patient. The patient is a 32-year-old female with &...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Gorska, Magdalena M., Alam, Rafeul
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Hematology 2012
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3286207/
https://ncbi.nlm.nih.gov/pubmed/22184408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2011-04-350686
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