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01-01-2016 | Letter to Editor

A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease

Authors: Sinan Sari, Figen Dogu, Vivian Hwa, Sule Haskologlu, Andrew Dauber, Ron Rosenfeld, Meltem Polat, Zarife Kuloglu, Aydan Kansu, Buket Dalgic, Aydan Ikinciogullari

Published in: Journal of Clinical Immunology | Issue 1/2016

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To the Editor …

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Kobrynski LJ, Mayer L. Diagnosis and treatment of primary immunodeficiency disease in patients with gastrointestinal symptoms. Clin Immunol. 2011;139(3):238–48.PubMedCrossRef

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Ludvigsson JF, Leffler DA, Bai JC, Biagi F, Fasano A, Green PH, et al. The Oslo definitions for coeliac disease and related terms. Gut. 2013;62(1):43–52.PubMedPubMedCentralCrossRef

Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, Herholz P, Trujillo-Vargas CM, Phadwal K, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90(6):986–1001.PubMedPubMedCentralCrossRef

Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol. 2012;130(2):481–8 e2.PubMedPubMedCentralCrossRef

Burns SO, Zenner HL, Plagnol V, Curtis J, Mok K, Eisenhut M, et al. LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. J Allergy Clin Immunol. 2012;130(6):1428–32.PubMedPubMedCentralCrossRef

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Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349(6246):436–40.PubMedCrossRef

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Title: A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease
Authors: Sinan Sari
Figen Dogu
Vivian Hwa
Sule Haskologlu
Andrew Dauber
Ron Rosenfeld
Meltem Polat
Zarife Kuloglu
Aydan Kansu
Buket Dalgic
Aydan Ikinciogullari
Publication date: 01-01-2016
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 1/2016
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-015-0220-y

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