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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 4/2018

01-05-2018 | Letter to Editor

First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease

Authors: Vito Sabato, Jack Chovanec, Margaretha Faber, Joshua D. Milner, Didier Ebo, Jonathan J. Lyons

Published in: Journal of Clinical Immunology | Issue 4/2018

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Excerpt

To the Editor …
Appendix
Available only for authorised users
Literature
1.
Lyons JJ, Yu X, Hughes JD, Le QT, Jamil A, Bai Y, et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet. 2016;48(12):1564–9.CrossRefPubMedPubMedCentral
2.
Theoharides TC, Valent P, Akin C. Mast cells, mastocytosis, and related disorders. N Engl J Med. 2015;373(2):163–72.CrossRefPubMed
3.
Lyons JJ, Sun G, Stone KD, Nelson C, Wisch L, O'Brien M, et al. Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. J Allergy Clin Immunol. 2014;133(5):1471–4.CrossRefPubMedPubMedCentral
4.
Sabato V, Van De Vijver E, Hagendorens M, Vrelust I, Reyniers E, Fransen E, et al. Familial hypertryptasemia with associated mast cell activation syndrome. J Allergy Clin Immunol. 2014;134(6):1448–50 e3.CrossRefPubMed
5.
Alvarez-Twose I, Gonzalez de Olano D, Sanchez-Munoz L, Matito A, Esteban-Lopez MI, Vega A, et al. Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms. J Allergy Clin Immunol. 2010;125(6):1269–78 e2.CrossRefPubMed
6.
Wimazal F, Schwarzmeier J, Sotlar K, Simonitsch I, Sperr WR, Fritsche-Polanz R, et al. Splenic mastocytosis: report of two cases and detection of the transforming somatic C-KIT mutation D816V. Leuk Lymphoma. 2004;45(4):723–9.CrossRefPubMed
7.
Cohen SS, Skovbo S, Vestergaard H, Kristensen T, Moller M, Bindslev-Jensen C, et al. Epidemiology of systemic mastocytosis in Denmark. Br J Haematol. 2014;166(4):521–8.CrossRefPubMed
8.
Sonneck K, Florian S, Bohm A, Krauth MT, Kondo R, Hauswirth AW, et al. Evaluation of biologic activity of tryptase secreted from blast cells in acute myeloid leukemia. Leuk Lymphoma. 2006;47(5):897–906.CrossRefPubMed
9.
Trivedi NN, Tamraz B, Chu C, Kwok PY, Caughey GH. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. J Allergy Clin Immunol. 2009;124(5):1099–105 e1-4.CrossRefPubMedPubMedCentral
10.
Soto D, Malmsten C, Blount JL, Muilenburg DJ, Caughey GH. Genetic deficiency of human mast cell alpha-tryptase. Clin Exp Allergy. 2002;32(7):1000–6.CrossRefPubMed
11.
Akin C, Soto D, Brittain E, Chhabra A, Schwartz LB, Caughey GH, et al. Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels. Clin Immunol. 2007;123(3):268–71.CrossRefPubMedPubMedCentral
Metadata
Title
First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease
Authors
Vito Sabato
Jack Chovanec
Margaretha Faber
Joshua D. Milner
Didier Ebo
Jonathan J. Lyons
Publication date
01-05-2018
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 4/2018
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-018-0506-y

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