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

@article{Gorska2012AMI,
  title={A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia.},
  author={Magdalena M. Gorska and Rafeul Alam},
  journal={Blood},
  year={2012},
  volume={119 6},
  pages={1399-406}
}
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 < 300 CD4 T cells/μL and with a history of recurrent sinusitis/otitis media, frequent episodes of shingles, a widespread fungal nail infection, fungal dermatitis, oral herpetic lesions, and… CONTINUE READING