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

ABSTRACT:

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 included linkage analysis, targeted Sanger sequencing, and next-generation whole-genome sequencing.

Results

Cold urticaria occurred in all affected subjects. Other, variable manifestations included atopy, granulomatous rash, autoimmune thyroiditis, the presence of antinuclear anti

SUBMITTER: Ombrello MJ 

PROVIDER: S-EPMC3298368 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature