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, 2014 Jan.
Article
em En
| MEDLINE
| ID: mdl-24333532
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 (TGFß) 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.
Palavras-chave
Allergy; EBV; EDS; Eczema; EhlersDanlos syndrome; EpsteinBarr virus; HIES; Hyper-IgE; Hyper-IgE syndrome; LDS; LoeysDietz syndrome; MFS; Marfan syndrome; T(reg); TAAD; TGF-beta; TGFBR; TGFß; Transforming growth factor beta receptor; regulatory T cells; thoracic aortic aneurysm and dissections; transforming growth factor beta
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Imunoglobulina E
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Proteínas Serina-Treonina Quinases
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Receptores de Fatores de Crescimento Transformadores beta
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Eczema
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Síndrome de Loeys-Dietz
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Middle aged
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article