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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 &...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Hematology
2012
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| Assuntos: | |
| Acesso em linha: | 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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