Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions - Ombrello, Michael J; Remmers, Elaine F; Sun, Guangping; Freeman, Alexandra F; Datta, Shrimati; Torabi-Parizi, Parizad; Subramanian, Naeha; Bunney, Tom D; Baxendale, Rhona W; Martins, Marta S; Romberg, Neil; Komarow, Hirsh; et al. (The New England journal of medicine, 2012)
Keywords: Antinuclear antibodies; Atopy; Autoantibodies; Autoimmune diseases; Autoimmune Diseases - genetics; Autoimmunity; Biological and medical sciences; Cells; Cold; Cold Temperature - adverse effects; Common variable immunodeficiency; Complementary DNA; Cryopyrin-Associated Periodic Syndromes - genetics; Dermatitis; Disease; DNA sequencing; DNA, Complementary - analysis; DNA, Complementary - isolation & purification; Exons; Female; Flow cytometry; General aspects; Genetic analysis; Genomes; Haplotypes; Humans; Immune response; Immunodeficiencies; Immunodeficiencies. Immunoglobulinopathies; Immunoglobulin A; Immunoglobulin M; Immunologic Deficiency Syndromes - genetics; Immunological memory; Immunological tolerance; Immunopathology; Immunoregulation; Linkage analysis; Lymphocytes B; Male; Mast cells; Medical sciences; Natural killer cells; Pedigree; Phenotype; Phenotypes; Phospholipase C gamma - genetics; Phospholipase C gamma - metabolism; Polymorphism, Single Nucleotide; Proteins; Research programs; Sequence Analysis, DNA; Sequence Deletion; Thyroiditis; Urticaria; Autoimmunity; Medicine; Cold urticaria; Deletion; Immunopathology; Immune deficiency