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

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• 作者：Kerstin Felgentreff ; Matthias Siepe ; Stefan Kotthoff ; Yskert von Kodolitsch ; Kristina Schachtrup ; Luigi D. Notarangelo ; Jolan E. Walter ; Stephan Ehl
• 关键词：TGF尾 ; transforming growth factor beta ; Treg ; regulatory T cells ; TGFBR ; Transforming growth factor beta receptor ; LDS ; Loeys&ndash ; Dietz syndrome ; MFS ; Marfan syndrome ; EDS ; Ehlers&ndash ; Danlos syndrome ; TAAD ; thoracic aortic aneurysm and dissections ; HIES ; Hyper-IgE syndrome ; EBV ; Epstein&ndash ; Barr virus
• 刊名：Clinical Immunology
• 出版年：January, 2014
• 年：2014
• 卷：150
• 期：1
• 页码：43-50
• 全文大小：491 K

文摘

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 (TGF尾) 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.