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)
• ISSN: 0091-6749; 1097-6825; 1097-6825
• DOI: 10.1016/j.jaci.2013.11.039

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 identified that help illuminate some pathophysiologic mechanisms underlying the development of atopy in the general population. For additional clinical characterization of the families, see the Results section in this article's Online Repository at www.jacionline.org. Because some of the reported symptoms in tryptasemic subjects could have been consistent with the familial presentation of a clonal mast cell disorder, index patients in 5 of 9 families underwent bone marrow biopsy.