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目的探讨1例湿疹血小板减少伴免疫缺陷综合征(Wiskott-Aldrich syndrome,WAS)伴肺出血患儿临床分子特点。方法对1例疑似WAS的男性患儿,采用流式细胞技术检测WAS蛋白表达,PCR结合测序方法进行WAS基因分析,同时检测患儿调节性B细胞(B10)比例,并对其进行随访。结果患儿出生后即有眼眶及耳道周围湿疹,1月龄发现血小板减少(80×109/L),伴有反复呼吸道和消化道感染。8月龄入我院免疫科治疗。入院时血小板计数5×109/L,伴中度贫血,Coom’S实验阳性。骨髓检查未见产板巨核细胞。实验室检测患儿WAS蛋白为阴性,WAS基因分析显示第2内含子有剪切位点突变(c.274-2A>C)。患儿调节性B细胞比例明显低于正常对照。住院第2天,患儿颜面部出现紫癜样皮疹,四肢、双足背出现明显肿胀,并逐渐加重,伴有反复便血和尿血。第11天无明显诱因突发心率下降至80~100次/分、呼吸不规则,伴咯血,抢救中自气管插管内吸出100 ml鲜血,最终抢救无效死亡。结论通过临床表现、蛋白检测和基因分析,确诊1例WAS患儿,发现1个WAS基因新型剪切位点突变。对早发自身免疫性疾病的WAS患儿,需警惕内脏出血的可能,包括肺出血,并及早预防。
Objective To investigate the clinical molecular features of 1 case of eczema with Wiskott-Aldrich syndrome (WAS) with pulmonary hemorrhage. Methods WAS gene expression was detected by flow cytometry (FCM) in 1 male WAS-infected child. WAS gene analysis was performed by PCR and sequencing method. The proportion of B10 in children with BAS was detected and followed up. Results The children had eczema around the orbit and ear canal after birth, thrombocytopenia (80 × 109 / L) at 1 month old, with recurrent respiratory and gastrointestinal infections. 8 months into our hospital immunology department treatment. Admission platelet count 5 × 109 / L, with moderate anemia, Coom’s test was positive. Marrow check no plate megakaryocytes. WAS protein was negative in laboratory and WAS gene analysis showed that there was a mutation in the second intron (c.274-2A> C). The proportion of children with regulatory B cells was significantly lower than the normal control. The first day of hospitalization, children with facial purpura-like rash, limbs, biceps obvious swelling, and gradually increased, accompanied by repeated blood in the stool and hematuria. On the 11th day, the sudden heart rate dropped to 80 ~ 100 beats / min with no obvious cause. The breathing was irregular with hemoptysis, and 100 ml of blood was drawn from the endotracheal tube during the rescue. Conclusion One case of WAS was diagnosed by clinical manifestation, protein detection and gene analysis, and a new WAS gene mutation site was found. Early WAS children with autoimmune diseases should be alert to the possibility of visceral hemorrhage, including pulmonary bleeding, and early prevention.