New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
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DOI：
10.3390/jcm9072092
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发表时间：
2020-07-01
影响因子：
3.9
通讯作者：
Videira, Paula A.
中科院分区：
文献类型：
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作者：
Francisco, Rita;Pascoal, Carlota;Videira, Paula A.
先天性糖基化障碍 (CDG) 是一种罕见疾病，其表型和严重程度各不相同。免疫学参与在 CDG 中仍然是一个很大程度上未知的话题，主要是由于缺乏可靠的数据。为了更好地描述免疫相关表现的患病率、相关性和生活质量 (QoL) 影响，我们开发了针对 (1) CDG 患者和 (2) 一般“健康”人群的电子问卷。本研究包括 209 名 CDG 患者/护理人员和 349 名健康参与者。 PMM2-CDG 是最具代表性的 CDG (n= 122/209)。大约一半的参与者 (n= 65/122) 描述了相关感染，其中影响胃肠道 (GI) 的感染流行率值得注意 (63.1%，n= 41/65)。感染负担和生活质量影响显示为感染与更严重的临床表型和一组相关的非免疫 PMM2-CDG 体征相关。自身免疫性疾病在 PMM2-CDG 中仅少量存在（2.5%，n= 3/122），所有疾病均与胃肠道相关。除食物过敏外，PMM2-CDG 的过敏患病率也较低（33%，n= 41/122）（PMM2-CDG 为 26.8%，n= 11/41，对照组为 10.8%，n= 17/158）。 PMM2-CDG 中描述了较高的疫苗接种依从性、较高的感知无效性（28.3%，n= 17/60）和更严重的不良反应。这种以人为中心的方法不仅证实了文献研究结果，而且还为 CDG 的免疫学参与提供了新的见解，即通过强调 PMM2-CDG 中免疫系统和胃肠道系统之间可能的联系。最后，我们的结果强调了患者/护理人员知识的重要性，并提出了关于免疫管理的一些危险信号。
Congenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due to lack of robust data. To better characterize immune-related manifestations' prevalence, relevance, and quality-of-life (QoL) impact, we developed electronic questionnaires targeting (1) CDG patients and (2) the general "healthy" population. Two-hundred and nine CDG patients/caregivers and 349 healthy participants were included in this study. PMM2-CDG was the most represented CDG (n= 122/209). About half of these participants (n= 65/122) described relevant infections with a noteworthy prevalence of those affecting the gastrointestinal tract (GI) (63.1%,n= 41/65). Infection burden and QoL impact were shown as infections correlated with more severe clinical phenotypes and with a set of relevant non-immune PMM2-CDG signs. Autoimmune diseases had only a marginal presence in PMM2-CDG (2.5%,n= 3/122), all being GI-related. Allergy prevalence was also low in PMM2-CDG (33%,n= 41/122) except for food allergies (26.8%,n= 11/41, of PMM2-CDG and 10.8%,n= 17/158, of controls). High vaccination compliance with greater perceived ineffectiveness (28.3%,n= 17/60) and more severe adverse reactions were described in PMM2-CDG. This people-centric approach not only confirmed literature findings, but created new insights into immunological involvement in CDG, namely by highlighting the possible link between the immune and GI systems in PMM2-CDG. Finally, our results emphasized the importance of patient/caregiver knowledge and raised several red flags about immunological management.