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Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities Jonathan J. Lyons, MD, Guangping Sun, MD, Kelly D. Stone, MD, PhD, Celeste Nelson, CRNP, Laura Wisch, MSN, Michelle O'Brien, RN, BSN, Nina Jones, RN, BSN, Andrew Lindsley, MD, PhD, Hirsh D. Komarow, MD, Yun Bai, MS, Linda M. Scott, MS, CRNP, Daly Cantave, MSN, Irina Maric, MD, J. Pablo Abonia, MD, Marc E. Rothenberg, MD, PhD, Lawrence B. Schwartz, MD, PhD, Joshua D. Milner, MD, Todd M. Wilson, DO Journal of Allergy and Clinical Immunology Volume 133, Issue 5, Pages (May 2014) DOI: /j.jaci Copyright © Terms and Conditions
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Fig 1 Pedigrees, ages, and clinical phenotypes of affected subjects. GERD, Gastroesophageal reflux disease; IBS, irritable bowel syndrome. †Hymenoptera hypersensitivity. 1Abormalities include pectus excavatum, plagiocephaly/brachycephaly, torticollis, femoral anteversion, tibial torsion, congenital mitral valve insufficiency, tortuous/ectatic intracranial vessels, and scoliosis. 2Principally manifesting as postural orthostatic tachycardic syndrome. 3Arthralgia, fibromyalgia, and vulvodynia. 4Encopresis. 5Immediate hypersensitivity reaction to radiocontrast media in 1 patient. Journal of Allergy and Clinical Immunology , DOI: ( /j.jaci ) Copyright © Terms and Conditions
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Fig 2 Phenotypic characteristics and in vitro basophil activation of patients with inherited tryptase level increases. A, Clinical traits are independently and significantly associated with inherited increases in basal serum tryptase levels (Fisher exact test). B, Relative difference of CD203c mean fluorescence intensity (MFI) in affected subjects normalized to paired control subjects as a percentage of paired control MFI as follows: [(Patient−Control)/Control]*100. C, Difference in percentage of CD63+ cells within the CD203c+ cell population of affected subjects from paired control subjects. Data in Fig 2, B and C, are plotted with medians ± interquartile ranges. *P < .05, **P < .01, and ***P < .005, Wilcoxon signed-rank test. Journal of Allergy and Clinical Immunology , DOI: ( /j.jaci ) Copyright © Terms and Conditions
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