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Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions
Author(s) -
Michael J. Ombrello,
Elaine F. Remmers,
Guangping Sun,
Alexandra F. Freeman,
Shrimati Datta,
Parizad TorabiParizi,
Naeha Subramanian,
Tom D. Bunney,
Rhona W. Baxendale,
Marta Martins,
Neil Romberg,
Hirsh D. Komarow,
Ivona Aksentijevich,
Hun Sik Kim,
Jason Ho,
Glenn Cruse,
Miyeon Jung,
Alasdair M. Gilfillan,
Dean D. Metcalfe,
Celeste M. Nelson,
Michelle O’Brien,
Laura Wisch,
Kelly D. Stone,
Daniel C. Douek,
Chhavi Gandhi,
Alan A. Wanderer,
Hane Lee,
Stanley F. Nelson,
Kevin V. Shianna,
Elizabeth T. Cirulli,
David B. Goldstein,
Eric O. Long,
Susan Moir,
Eric Meffre,
Steven M. Holland,
Daniel L. Kastner,
Matilda Katan,
Hal M. Hoffman,
Joshua D. Milner
Publication year - 2012
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1102140
Subject(s) - autoimmunity , medicine , immunology , immunodeficiency , immunopathology , human immunodeficiency virus (hiv) , virology , immunodeficiency syndrome , immune system
Mendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance.

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