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, Vol. 150, No. 1, 01.2014, p. 43-50.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -