PDF(Pubmed)
Abstract：
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and coloboma, heart defect, atresia choanae, retardation of growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome. Practice variations affect the initial and subsequent assessment of immune function, the terminology used to describe the condition and immune status, the accepted criteria for recommending live vaccines, and how often follow-up is needed based on the degree of immune compromise. The lack of consensus and widely varying practices highlight the need to establish updated immunological clinical practice guidelines. These guideline recommendations provide a comprehensive review for immunologists and other clinicians who manage immune aspects of this group of disorders.
摘要：
关于胸腺发育缺陷（DTD）患者的免疫检查和管理，其中包括染色体22q11.2微缺失综合征（22q11.2del）和其他原因的DiGeorge综合征（DGS）和结肠瘤，心脏缺陷,锁骨闭锁,生长发育迟缓，生殖器发育不全,耳朵异常/耳聋（CHARGE）综合征。实践差异会影响免疫功能的初始和后续评估，用于描述病情和免疫状态的术语，推荐活疫苗的公认标准，以及根据免疫受损的程度需要多久随访一次。缺乏共识和广泛不同的实践突显了建立更新的免疫学临床实践指南的必要性。这些指南建议为管理这组疾病的免疫方面的免疫学家和其他临床医生提供了全面的审查。
