Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

@article{Ombrello2012ColdUI,
  title={Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.},
  author={Michael J Ombrello and Elaine F. Remmers and Guangping Sun and Alexandra F Freeman and Shrimati Datta and Parizad Torabi-Parizi and Naeha Subramanian and Tom D. Bunney and Rhona W. Baxendale and Marta S Martins and Neil D Romberg and Hirsh D. Komarow and Ivona Aksentijevich and Hun Sik Kim and Jason Ho and Glenn Cruse and Mi-Yeon Jung and Alasdair M. Gilfillan and Dean D Metcalfe and Celeste Nelson and Michelle O'Brien and Laura B Wisch and Kelly Stone and Daniel C. Douek and Chhavi Gandhi and Alan A. Wanderer and Hane Lee and Stanley F. Nelson and Kevin V. Shianna and Elizabeth T. Cirulli and David K. Goldstein and Eric O Long and Susan Moir and Eric Meffre and Steven M Holland and Daniel L. Kastner and Matilda Katan and Hal M. Hoffman and Joshua D. Milner},
  journal={The New England journal of medicine},
  year={2012},
  volume={366 4},
  pages={
          330-8
        }
}
BACKGROUND Mendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance. METHODS We identified three families with a dominantly inherited complex of cold-induced urticaria, antibody deficiency, and susceptibility to infection and autoimmunity. Immunophenotyping methods included flow cytometry, analysis of serum immunoglobulins and autoantibodies, lymphocyte stimulation, and enzymatic assays. Genetic studies… CONTINUE READING
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