Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

@article{Shiow2009SevereCI,
  title={Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.},
  author={Lawrence R Shiow and Kenneth Paris and Matthew C. Akana and Jason G Cyster and Ricardo U. Sorensen and Jennifer M Puck},
  journal={Clinical immunology},
  year={2009},
  volume={131 1},
  pages={24-30}
}
Defects causing severe combined immunodeficiency (SCID) have been reported in pathways mediating antigen receptor rearrangement, antigen receptor and cytokine signaling, and purine metabolism. Recognizing that the actin regulator Coronin-1A is essential for development of a normal peripheral T cell compartment in mouse models, we identified absence of Coronin-1A in a girl with T-B+NK+ SCID who suffered recurrent infections including severe post-vaccination varicella at age 13 months. Murine… CONTINUE READING
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