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 inJournal 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
LanguageEnglish
Published 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.
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
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Issue 5
Keywords Allergy
Immunopathology
Serine endopeptidases
Enzyme
Atopy
Peptidases
Connective tissue
Association
Immunology
Tryptase
Hydrolases
Serum
Anomaly
Inheritance(genetics)
Language English
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Snippet Genome-wide association studies and candidate gene approaches have produced an array of allelic variants that impart risk for allergic diatheses.E1 Although...
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SubjectTerms 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
Title Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities
URI https://www.clinicalkey.es/playcontent/1-s2.0-S0091674913019246
https://dx.doi.org/10.1016/j.jaci.2013.11.039
https://www.ncbi.nlm.nih.gov/pubmed/24472624
https://www.proquest.com/docview/1518904817
https://www.proquest.com/docview/1519840657
https://pubmed.ncbi.nlm.nih.gov/PMC4016972
Volume 133
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