Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities
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...
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Published in | Journal of allergy and clinical immunology Vol. 133; no. 5; pp. 1471 - 1474 |
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Main Authors | , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
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New York, NY
Elsevier Inc
01.05.2014
Elsevier Elsevier Limited |
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Abstract | 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. |
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AbstractList | 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. |
Author | Lyons, Jonathan J., MD Stone, Kelly D., MD, PhD Wilson, Todd M., DO Komarow, Hirsh D., MD Schwartz, Lawrence B., MD, PhD Milner, Joshua D., MD Rothenberg, Marc E., MD, PhD Jones, Nina, RN, BSN Sun, Guangping, MD Wisch, Laura, MSN Nelson, Celeste, CRNP Cantave, Daly, MSN Abonia, J. Pablo, MD Scott, Linda M., MS, CRNP O'Brien, Michelle, RN, BSN Lindsley, Andrew, MD, PhD Bai, Yun, MS Maric, Irina, MD |
AuthorAffiliation | 2 Clinical Research Directorate/CMRP, Leidos Biomedical Research Inc., (formerly SAIC-Frederick, Inc.), Frederick National Laboratory for Cancer Research, Frederick, MD 1 Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 3 Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 6 Department of Internal Medicine, Virginia Commonwealth University, Richmond, VA 5 Department of Laboratory Medicine, National Institutes of Health, Bethesda, MD 4 Clinical Center, National Institutes of Health, Bethesda, MD |
AuthorAffiliation_xml | – name: 5 Department of Laboratory Medicine, National Institutes of Health, Bethesda, MD – name: 3 Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH – name: 6 Department of Internal Medicine, Virginia Commonwealth University, Richmond, VA – name: 2 Clinical Research Directorate/CMRP, Leidos Biomedical Research Inc., (formerly SAIC-Frederick, Inc.), Frederick National Laboratory for Cancer Research, Frederick, MD – name: 4 Clinical Center, National Institutes of Health, Bethesda, MD – name: 1 Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD |
Author_xml | – sequence: 1 fullname: Lyons, Jonathan J., MD – sequence: 2 fullname: Sun, Guangping, MD – sequence: 3 fullname: Stone, Kelly D., MD, PhD – sequence: 4 fullname: Nelson, Celeste, CRNP – sequence: 5 fullname: Wisch, Laura, MSN – sequence: 6 fullname: O'Brien, Michelle, RN, BSN – sequence: 7 fullname: Jones, Nina, RN, BSN – sequence: 8 fullname: Lindsley, Andrew, MD, PhD – sequence: 9 fullname: Komarow, Hirsh D., MD – sequence: 10 fullname: Bai, Yun, MS – sequence: 11 fullname: Scott, Linda M., MS, CRNP – sequence: 12 fullname: Cantave, Daly, MSN – sequence: 13 fullname: Maric, Irina, MD – sequence: 14 fullname: Abonia, J. Pablo, MD – sequence: 15 fullname: Rothenberg, Marc E., MD, PhD – sequence: 16 fullname: Schwartz, Lawrence B., MD, PhD – sequence: 17 fullname: Milner, Joshua D., MD – sequence: 18 fullname: Wilson, Todd M., DO |
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Keywords | Allergy Immunopathology Serine endopeptidases Enzyme Atopy Peptidases Connective tissue Association Immunology Tryptase Hydrolases Serum Anomaly Inheritance(genetics) |
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Title | Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities |
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