Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities

• Published in: Journal of allergy and clinical immunology Vol. 133; no. 5; pp. 1471 - 1474
• Main Authors: Lyons, Jonathan J., MD, Sun, Guangping, MD, Stone, Kelly D., MD, PhD, Nelson, Celeste, CRNP, Wisch, Laura, MSN, O'Brien, Michelle, RN, BSN, Jones, Nina, RN, BSN, Lindsley, Andrew, MD, PhD, Komarow, Hirsh D., MD, Bai, Yun, MS, Scott, Linda M., MS, CRNP, Cantave, Daly, MSN, Maric, Irina, MD, Abonia, J. Pablo, MD, Rothenberg, Marc E., MD, PhD, Schwartz, Lawrence B., MD, PhD, Milner, Joshua D., MD, Wilson, Todd M., DO
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.05.2014; Elsevier; Elsevier Limited
• Subjects: Allergy and Immunology; Biological and medical sciences; Biopsy; Bone marrow; Connective Tissue - abnormalities; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Gastrointestinal diseases; Humans; Hypersensitivity - enzymology; Hypersensitivity - genetics; Immunopathology; Male; Medical sciences; Mutation; Pain; Patients; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Tryptases - blood; Tryptases - genetics; Tryptases - immunology; Allergy; Immunopathology; Serine endopeptidases; Enzyme; Atopy; Peptidases; Connective tissue; Association; Immunology; Tryptase; Hydrolases; Serum; Anomaly; Inheritance(genetics)

Genome-wide association studies and candidate gene approaches have produced an array of allelic variants that impart risk for allergic diatheses.E1 Although identification of monogenic allergic disease and inherited mast cell disorders has remained less common, several heritable mutations have been...