当前位置: X-MOL 学术Allergol. Immunopathol. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Syndromic immunodeficiencies: a pediatrician's perspective on selected diseases.
Allergologia et Immunopathologia ( IF 1.8 ) Pub Date : 2021-07-01 , DOI: 10.15586/aei.v49i4.200
Aleksandra Szczawinska-Poplonyk 1 , Kinga Begier 2 , Alicja Dorota 2 , Monika Dabrowska 2 , Dominika Galecka 2 , Kamila Wawrzeniak 2 , Kamil Wroblewski 2
Affiliation  

BACKGROUND Syndromic immunodeficiencies are a genetically and pathophysiologically heterogeneous group of inborn errors of immunity. These are characterized by multiple extra immune clinical symptoms and a wide range of immunological phenotypes with increased susceptibility to infections, autoimmune phenomena, immune dysregulation, organ-specific pathology, and malignancy. OBJECTIVE To increase the pediatricians' awareness of this multifaceted group of primary immunodeficiencies in children. METHODS A comprehensive review of genetic background and clinical symptomatology of syndromic immunodeficiencies as well as current diagnostic approach and treatment modalities. RESULTS From the pediatrician's perspective, an early-life diagnosis of syndromic immunodeficiencies, which is frequently indispensable for successful life-saving immunocorrection, poses a diagnostic challenge. Increased pediatricians' awareness to recognize signs and symptoms of these diseases in affected children is of paramount importance. Current advances in molecular biotechnology and immunogenetics, resulting in the implementation of newborn screening and new-generation sequencing, provide informative tools for definitive diagnosis and, in many new disease entities, for their definition and genotype-phenotype delineation and correlation. CONCLUSIONS A broad spectrum of clinical phenotypes in children with syndromic primary immunodeficiencies requires pediatrician's special attention, that is, individualized multidisciplinary approach under the supervision of a clinical immunologist.

中文翻译:

综合征免疫缺陷:儿科医生对选定疾病的看法。

背景综合征免疫缺陷是先天免疫缺陷的遗传和病理生理异质组。它们的特点是多种额外的免疫临床症状和广泛的免疫表型,对感染、自身免疫现象、免疫失调、器官特异性病理和恶性肿瘤的易感性增加。目的 提高儿科医生对这一多方面儿童原发性免疫缺陷组的认识。方法 对综合征性免疫缺陷的遗传背景和临床症状以及当前的诊断方法和治疗方式进行全面审查。结果 从儿科医生的角度来看,综合征免疫缺陷的早期诊断,这对于成功挽救生命的免疫矫正来说通常是必不可少的,这对诊断提出了挑战。提高儿科医生在受影响儿童中识别这些疾病的体征和症状的意识至关重要。当前分子生物技术和免疫遗传学的进步导致新生儿筛查和新一代测序的实施,为确诊提供了信息工具,并在许多新疾病实体中为其定义和基因型-表型描绘和相关性提供了信息工具。结论 综合征性原发性免疫缺陷儿童的广泛临床表型需要儿科医生的特别关注,即在临床免疫学家的监督下采取个体化的多学科方法。提高儿科医生在受影响儿童中识别这些疾病的体征和症状的意识至关重要。当前分子生物技术和免疫遗传学的进步导致新生儿筛查和新一代测序的实施,为确诊提供了信息工具,并在许多新疾病实体中为其定义和基因型-表型描绘和相关性提供了信息工具。结论 综合征性原发性免疫缺陷儿童的广泛临床表型需要儿科医生的特别关注,即在临床免疫学家的监督下采取个体化的多学科方法。提高儿科医生在受影响儿童中识别这些疾病的体征和症状的意识至关重要。当前分子生物技术和免疫遗传学的进步导致新生儿筛查和新一代测序的实施,为确诊提供了信息工具,并在许多新疾病实体中为其定义和基因型-表型描绘和相关性提供了信息工具。结论 综合征性原发性免疫缺陷儿童的广泛临床表型需要儿科医生的特别关注,即在临床免疫学家的监督下采取个体化的多学科方法。当前分子生物技术和免疫遗传学的进步导致新生儿筛查和新一代测序的实施,为确诊提供了信息工具,并在许多新疾病实体中为其定义和基因型-表型描绘和相关性提供了信息工具。结论 综合征性原发性免疫缺陷儿童的广泛临床表型需要儿科医生的特别关注,即在临床免疫学家的监督下采取个体化的多学科方法。当前分子生物技术和免疫遗传学的进步导致新生儿筛查和新一代测序的实施,为确诊提供了信息工具,并在许多新疾病实体中为其定义和基因型-表型描绘和相关性提供了信息工具。结论 综合征性原发性免疫缺陷儿童的广泛临床表型需要儿科医生的特别关注,即在临床免疫学家的监督下采取个体化的多学科方法。
更新日期:2021-07-01
down
wechat
bug