View Entire Collection
By Clinical Topic
By State Requirement
Diabetes – Summer 2012
Future of Nursing Initiative
Heart Failure - Fall 2011
Influenza - Winter 2011
Nursing Ethics - Fall 2011
Trauma - Fall 2010
Traumatic Brain Injury - Fall 2010
Fluids & Electrolytes
THURSDAY, Jan. 12 (HealthDay News) -- The PLCG2 gene, which encodes phospholipase Cγ2, has been found to be associated with a dominantly inherited medical condition causing cold urticaria, immunodeficiency, and autoimmunity, according to a study published online Jan. 11 in the New England Journal of Medicine.
Michael J. Ombrello, M.D., of the National Human Genome Research Institute in Bethesda, Md., and colleagues characterized the genomics involved in a dominantly inherited complex of cold-induced urticaria, antibody deficiency, and susceptibility to infection and autoimmunity in three families of European descent.
The researchers found that cold urticaria was present in all affected subjects; variable manifestations included granulomatous rash, autoimmune thyroiditis, atopy, antinuclear antibodies, sinopulmonary infections, and other signs of immunodeficiency. The number of natural killer cells and class-switched memory B cells as well as serum IgM and IgA levels were reduced. Three distinct in-frame deletions involving the PLCG2 gene on chromosome 16q that codes for protein products with constitutive phospholipase activity were identified. When expressed in leukocytes, these deletions caused cellular signaling to be temperature-sensitive.
"In three families with a dominantly inherited syndrome of cold urticaria and pleiotropic immune dysregulation, we found that genomic deletions in PLCG2 were responsible for this unique phenotype," the authors write.
One author disclosed financial ties to Illumina Inc.
Sign up for our free enewsletters to stay up-to-date in your area of practice - or take a look at an archive of prior issues
Join our CESaver program to earn up to 100 contact hours for only $34.95
Explore a world of online resources
Back to Top