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Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders

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Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders. / Felgentreff, Kerstin; Siepe, Matthias; Kotthoff, Stefan; von Kodolitsch, Yskert; Schachtrup, Kristina; Notarangelo, Luigi D; Walter, Jolan E; Ehl, Stephan.

in: CLIN IMMUNOL, Jahrgang 150, Nr. 1, 01.2014, S. 43-50.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Felgentreff, K, Siepe, M, Kotthoff, S, von Kodolitsch, Y, Schachtrup, K, Notarangelo, LD, Walter, JE & Ehl, S 2014, 'Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders', CLIN IMMUNOL, Jg. 150, Nr. 1, S. 43-50. https://doi.org/10.1016/j.clim.2013.11.008

APA

Felgentreff, K., Siepe, M., Kotthoff, S., von Kodolitsch, Y., Schachtrup, K., Notarangelo, L. D., Walter, J. E., & Ehl, S. (2014). Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders. CLIN IMMUNOL, 150(1), 43-50. https://doi.org/10.1016/j.clim.2013.11.008

Vancouver

Felgentreff K, Siepe M, Kotthoff S, von Kodolitsch Y, Schachtrup K, Notarangelo LD et al. Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders. CLIN IMMUNOL. 2014 Jan;150(1):43-50. https://doi.org/10.1016/j.clim.2013.11.008

Bibtex

@article{6c44f07ca47c49a0a401b0f77227386b,
title = "Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders",
abstract = "Loeys-Dietz syndrome (LDS) is a connective tissue disorder caused by monoallelic mutations in TGFBR1 and TGFBR2, which encode for subunits of the transforming growth factor beta (TGFβ) receptor. Affected patients are identified by vascular aneurysms with tortuosity and distinct morphological presentations similar to Marfan syndrome; however, an additional predisposition towards asthma and allergy has recently been found. We describe two patients with a novel missense mutation in TGFBR1 presenting with highly elevated levels of IgE and severe eczema similar to autosomal-dominant Hyper-IgE syndrome (HIES). Mild allergic manifestations with normal up to moderately increased IgE were observed in 3 out of 6 additional LDS patients. A comparison of this cohort with 4 HIES patients illustrates the significant overlap of both syndromes including eczema and elevated IgE as well as skeletal and connective tissue manifestations. ",
keywords = "Adolescent, Adult, CD4-Positive T-Lymphocytes/immunology, Child, Child, Preschool, Connective Tissue Diseases/blood, Cytokines/immunology, Eczema/blood, Female, Humans, Immunoglobulin E/blood, Job Syndrome/blood, Loeys-Dietz Syndrome/blood, Middle Aged, Mutation, Missense, Protein-Serine-Threonine Kinases/genetics, Receptor, Transforming Growth Factor-beta Type I, Receptors, Transforming Growth Factor beta/genetics, STAT3 Transcription Factor/blood, Transforming Growth Factor beta/immunology",
author = "Kerstin Felgentreff and Matthias Siepe and Stefan Kotthoff and {von Kodolitsch}, Yskert and Kristina Schachtrup and Notarangelo, {Luigi D} and Walter, {Jolan E} and Stephan Ehl",
note = "Copyright {\textcopyright} 2013 Elsevier Inc. All rights reserved.",
year = "2014",
month = jan,
doi = "10.1016/j.clim.2013.11.008",
language = "English",
volume = "150",
pages = "43--50",
journal = "CLIN IMMUNOL",
issn = "1521-6616",
publisher = "Academic Press Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders

AU - Felgentreff, Kerstin

AU - Siepe, Matthias

AU - Kotthoff, Stefan

AU - von Kodolitsch, Yskert

AU - Schachtrup, Kristina

AU - Notarangelo, Luigi D

AU - Walter, Jolan E

AU - Ehl, Stephan

N1 - Copyright © 2013 Elsevier Inc. All rights reserved.

PY - 2014/1

Y1 - 2014/1

N2 - Loeys-Dietz syndrome (LDS) is a connective tissue disorder caused by monoallelic mutations in TGFBR1 and TGFBR2, which encode for subunits of the transforming growth factor beta (TGFβ) receptor. Affected patients are identified by vascular aneurysms with tortuosity and distinct morphological presentations similar to Marfan syndrome; however, an additional predisposition towards asthma and allergy has recently been found. We describe two patients with a novel missense mutation in TGFBR1 presenting with highly elevated levels of IgE and severe eczema similar to autosomal-dominant Hyper-IgE syndrome (HIES). Mild allergic manifestations with normal up to moderately increased IgE were observed in 3 out of 6 additional LDS patients. A comparison of this cohort with 4 HIES patients illustrates the significant overlap of both syndromes including eczema and elevated IgE as well as skeletal and connective tissue manifestations.

AB - Loeys-Dietz syndrome (LDS) is a connective tissue disorder caused by monoallelic mutations in TGFBR1 and TGFBR2, which encode for subunits of the transforming growth factor beta (TGFβ) receptor. Affected patients are identified by vascular aneurysms with tortuosity and distinct morphological presentations similar to Marfan syndrome; however, an additional predisposition towards asthma and allergy has recently been found. We describe two patients with a novel missense mutation in TGFBR1 presenting with highly elevated levels of IgE and severe eczema similar to autosomal-dominant Hyper-IgE syndrome (HIES). Mild allergic manifestations with normal up to moderately increased IgE were observed in 3 out of 6 additional LDS patients. A comparison of this cohort with 4 HIES patients illustrates the significant overlap of both syndromes including eczema and elevated IgE as well as skeletal and connective tissue manifestations.

KW - Adolescent

KW - Adult

KW - CD4-Positive T-Lymphocytes/immunology

KW - Child

KW - Child, Preschool

KW - Connective Tissue Diseases/blood

KW - Cytokines/immunology

KW - Eczema/blood

KW - Female

KW - Humans

KW - Immunoglobulin E/blood

KW - Job Syndrome/blood

KW - Loeys-Dietz Syndrome/blood

KW - Middle Aged

KW - Mutation, Missense

KW - Protein-Serine-Threonine Kinases/genetics

KW - Receptor, Transforming Growth Factor-beta Type I

KW - Receptors, Transforming Growth Factor beta/genetics

KW - STAT3 Transcription Factor/blood

KW - Transforming Growth Factor beta/immunology

U2 - 10.1016/j.clim.2013.11.008

DO - 10.1016/j.clim.2013.11.008

M3 - SCORING: Journal article

C2 - 24333532

VL - 150

SP - 43

EP - 50

JO - CLIN IMMUNOL

JF - CLIN IMMUNOL

SN - 1521-6616

IS - 1

ER -