Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Center of Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
University Heart Center Freiburg Bad Krozingen, Freiburg, Germany.
Clin Immunol. 2014 Jan;150(1):43-50. doi: 10.1016/j.clim.2013.11.008. Epub 2013 Nov 19.
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.
洛伊氏缺陷综合征（LDS）是一种结缔组织疾病，由 TGFBR1 和 TGFBR2 的单等位基因突变引起，这两个基因编码转化生长因子 β（TGFβ）受体的亚基。受影响的患者通过具有迂曲和独特形态表现的血管动脉瘤来识别，类似于马凡综合征；然而，最近发现了对哮喘和过敏的额外易感性。我们描述了两名 TGFBR1 中具有新错义突变的患者，其 IgE 水平极高，并且类似于常染色体显性高 IgE 综合征（HIES）的严重湿疹。在另外 6 名 LDS 患者中观察到 3 名患者存在轻度过敏表现，IgE 水平正常至中度升高。将该队列与 4 名 HIES 患者进行比较表明，这两种综合征存在显著重叠，包括湿疹和 IgE 升高以及骨骼和结缔组织表现。
