PDF(Pubmed)
Abstract：
Autosomal dominant hyper immunoglobulin E (IgE) syndrome is a rare inborn error of immunity that affects approximately one in a million individuals worldwide. It presents with various symptoms owing to multisystem involvement (immunological and non-immunological). Recurrent infections (mainly in the skin and lungs) are common presentations. A 5-year-old Middle Eastern boy presented with symptoms suggestive of obstructive uropathy secondary to multiple large pelviabdominal abscesses and acute kidney injury with hyperkalemia that necessitated admission to the intensive care unit. Upon further investigation, the patient\'s genetic test (whole exome sequencing) demonstrated a heterozygous missense variant in the STAT3 gene. The patient completely recovered and did not require further admission after initiating prophylactic antibiotics. Although deep-seated infections are uncommon in STAT3 hyper IgE syndrome, skin and lung infections are most commonly observed. Multiple deep collections can occur and require prompt intervention and aggressive treatment.
摘要：
常染色体显性显性高免疫球蛋白E（IgE）综合征是一种罕见的先天性免疫错误，影响全世界大约百万分之一的个体。由于多系统参与（免疫和非免疫），它表现出各种症状。反复感染（主要在皮肤和肺部）是常见的表现。一名5岁的中东男孩出现症状，提示继发于多发性大骨盆腹部脓肿和急性肾损伤伴高钾血症的阻塞性尿路病，因此需要进入重症监护病房。经进一步调查,患者的基因检测(全外显子组测序)显示STAT3基因存在杂合错义变异.患者完全康复，开始预防性抗生素后不需要进一步入院。尽管深部感染在STAT3高IgE综合征中并不常见，最常见的是皮肤和肺部感染。可能发生多个深度收集，需要及时干预和积极治疗。
