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

  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},
  volume={366 4},
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
Highly Cited
This paper has 96 citations. REVIEW CITATIONS


Publications citing this paper.
Showing 1-10 of 88 citations

97 Citations

Citations per Year
Semantic Scholar estimates that this publication has 97 citations based on the available data.

See our FAQ for additional information.


Publications referenced by this paper.
Showing 1-10 of 42 references

Enhanc - ing effects of adjuvanted 2009 pandemic H 1 N 1 inf luenza A vaccine on memory B - cell responses in HIV - infected individu

  • J Ho, S Moir, W Wang
  • AIDS
  • 2011