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首页> 外文期刊>Revista Cubana de Hematología, Inmunología y Hemoterapia >Edwards' syndrome associated to combined immunodeficiency
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Edwards' syndrome associated to combined immunodeficiency

机译：与综合免疫缺陷相关的爱德华兹综合症

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Edwards' syndrome is caused by a chromosomal imbalance represented by trisomy 18. Complete trisomy accounts for 95% of patients who present multiple malformations in organs and systems. The remaining 5% presents partial trisomy or mosaicism, with incomplete phenotype due to lack of some typical anomalies of this syndrome. Immunodeficiency is a rare manifestation of Edwards' syndrome. The case of a 9-months old female patient with partial trisomy 18 and recurrent severe infections since the neonatal phase, all associated to anemia, lymphopenia, thrombocytopenia and neutrophilia, was presented in this paper. The echographic test indicated tymus hypoplasia. There were reduced numbers of TCD4+, CD8+ lymphocytes and of natural killer cells. The lymphocyte B count was normal. Normal concentrations of serum IgM and IgG immunoglobulins as well as decreased concentrations of IgA were found. The total hemolytic activity of the classical complement pathway declined. No alteration was found in the opsonocytophagic function. The diagnosis was associated combined immunodeficiency, which proved the heterogeneity of the clinical expression of Edwards' syndrome and the relationship between the chromosomal defect and the formation of immune system in the intrauterine period.
机译：爱德华兹综合征是由三体性18代表的染色体失衡引起的。完全三体性占95％出现器官和系统多种畸形的患者。其余的5％表现为部分三体性或镶嵌性，由于缺乏该综合征的一些典型异常，其表型不完整。免疫缺陷是爱德华兹综合症的一种罕见表现。本文介绍了一名9个月大的女性患者，该患者患有18号三体性疾病，并且自新生儿期起便反复出现严重感染，均与贫血，淋巴细胞减少，血小板减少和中性粒细胞增多有关。超声检查表明胸腺发育不全。 TCD4 +，CD8 +淋巴细胞和自然杀伤细胞数量减少。淋巴细胞B计数正常。发现血清IgM和IgG免疫球蛋白的正常浓度以及IgA的浓度降低。经典补体途径的总溶血活性下降。调理吞噬功能未见改变。诊断与联合免疫缺陷有关，证明了爱德华兹综合症临床表达的异质性，以及子宫内期染色体缺陷与免疫系统形成之间的关系。

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