Details

Autor(en) / Beteiligte

• 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

Titel

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

Ist Teil von

• Journal of allergy and clinical immunology, 2014-05, Vol.133 (5), p.1471-1474

Ort / Verlag

New York, NY: Elsevier Inc

Erscheinungsjahr

2014

Quelle

Electronic Journals Library

Beschreibungen/Notizen

• 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.