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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 6/2017

01-08-2017 | Letter to Editor

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia

Authors: Catherine M. Biggs, Svetlana Kostjukovits, Kerry Dobbs, Saila Laakso, Paula Klemetti, Helena Valta, Mervi Taskinen, Outi Mäkitie, Luigi D. Notarangelo

Published in: Journal of Clinical Immunology | Issue 6/2017

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Excerpt

To the editor: …
Appendix
Available only for authorised users
Literature
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Rider NL, Morton DH, Puffenberger E, Hendrickson CL, Robinson DL, Strauss KA. Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. Clin Immunol. 2009;131(1):119–28.CrossRef
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Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, et al. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. Blood. 2010;116(1):27–35.CrossRef
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Makitie O, Kaitila I. Cartilage-hair hypoplasia—clinical manifestations in 108 Finnish patients. Eur J Pediatr. 1993;152(3):211–7.CrossRef
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Poliani PL, Facchetti F, Ravanini M, Gennery AR, Villa A, Roifman CM, et al. Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome. Blood. 2009;114(1):105–8.CrossRef
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de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, et al. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. J Allergy Clin Immunol. 2011;128(1):139–46.CrossRef
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Kostjukovits S, Degerman S, Pekkinen M, Klemetti P, Landfors M, Roos G, et al. Decreased telomere length in children with cartilage-hair hypoplasia. J Med Genet. 2017;54(5):365–70.CrossRef
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Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome. Ann N Y Acad Sci. 2011;1246:77–91.CrossRef
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Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, et al. Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J Allergy Clin Immunol. 2015;136(5):1401–4 e1-3.CrossRef
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Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, et al. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Investig. 2015;125(11):4135–48.CrossRef
Metadata
Title
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia
Authors
Catherine M. Biggs
Svetlana Kostjukovits
Kerry Dobbs
Saila Laakso
Paula Klemetti
Helena Valta
Mervi Taskinen
Outi Mäkitie
Luigi D. Notarangelo
Publication date
01-08-2017
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 6/2017
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-017-0408-4

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