Moinho Rita, Brett Ana, Ferreira Gisela, Lemos Sónia
Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de coimbra, Coimbra, Portugal.
Department of Serviço de Hematologia, Centro Hospitalar e Universitário de coimbra, Coimbra, Portugal.
BMJ Case Rep. 2014 Jun 12;2014:bcr2014204714. doi: 10.1136/bcr-2014-204714.
Vaccine failure is a rare condition and the need to investigate a primary immunodeficiency is controversial. We present the case of a 4-year-old boy, with complete antipneumococcal vaccination, who had necrotising pneumonia with pleural effusion and severe pancytopaenia with need for transfusion. A vaccine-serotype Streptococcus pneumoniae was isolated in the blood culture. On follow-up, detailed medical history, laboratory and genetic investigation led to the diagnosis of X linked dyskeratosis congenita. Dyskeratosis congenita is an inherited disorder that causes shortening or dysfunction of telomeres, affecting mainly rapidly dividing cells (particularly in the skin and haematopoietic system). It leads to bone marrow failure, combined immunodeficiency and predisposition to cancer. The confirmation of this diagnosis allows genetic counselling and medical monitoring of these patients, in order to detect early complications such as bone marrow aplasia or malignancies.
疫苗失效是一种罕见情况，而对原发性免疫缺陷进行调查的必要性存在争议。我们报告一例4岁男孩的病例，该男孩已完成抗肺炎球菌疫苗接种，却发生了伴有胸腔积液的坏死性肺炎以及需要输血的严重全血细胞减少症。血培养分离出一株疫苗血清型肺炎链球菌。随访时，详细的病史、实验室检查和基因检测最终诊断为X连锁先天性角化不良。先天性角化不良是一种遗传性疾病，可导致端粒缩短或功能异常，主要影响快速分裂的细胞（特别是皮肤和造血系统中的细胞）。它会导致骨髓衰竭、联合免疫缺陷以及易患癌症。这一诊断的确认使得能够对这些患者进行遗传咨询和医学监测，以便早期发现诸如骨髓再生障碍或恶性肿瘤等并发症。
