First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease-Reference-Cited by-同舟云学术

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

Published:2018-05 Issue:4 Volume:38 Page:457-459
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

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

Funder

AAAAI Foundation / The Mastocytosis Society

Fonds Wetenschappelijk Onderzoek

National Institute of Allergy and Infectious Diseases

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/article/10.1007/s10875-018-0506-y/fulltext.html

Reference11 articles.

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.

2. Theoharides TC, Valent P, Akin C. Mast cells, mastocytosis, and related disorders. N Engl J Med. 2015;373(2):163–72.

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.

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.

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.

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