Relationship between Fc receptor IIA polymorphism and infection in children with sickle cell disease.
Relationship between Fc receptor IIA polymorphism and infection in children with sickle cell disease.
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Fc受体IIA多态性与镰状细胞病患儿感染的关系
DOI：
10.1016/s0022-3476(96)70334-7
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发表时间：
1996
期刊：
影响因子：
--
通讯作者：
McKenzie,SE
中科院分区：
文献类型：
--
作者：
Norris,CF;Surrey,S;Bunin,GR;Schwartz,E;Buchanan,GR;McKenzie,SE
目的尽管青霉素可以预防和接种疫苗，但被包裹的微生物感染仍然是镰状细胞病儿童发病和死亡的主要原因。Fc受体在清除被包裹的生物体中的作用已经得到了很好的证明。FcγRIIA受体第131位氨基酸的His(H)-Arg(R)多态改变了与人Ig G2的结合亲和力，并影响了无镰状细胞疾病的儿童对被包裹生物的感染。我们假设高亲和力人IgG2结合(H/H131)的基因在有包裹性生物体感染的镰状细胞病儿童中代表不足。设计：我们研究了来自四个参与中心的60名患有镰状细胞病的黑人儿童，他们有包裹体感染史。结果与我们的假设相反，所有个体(P=0.046)，尤其是有b型流感嗜血杆菌感染病史的11个个体(%H/H131，27%H/R131，9%R/R131；P=0.002)与种族匹配的对照组(14%H/H131，60%H/R131，26%R/R131)相比，H/H131基因在所有个体中都有过高的表达(P=0.046)。在51例有肺炎链球菌感染病史的儿童中，H/H131FcγRIIA基因型分布与对照人群无统计学差异。结论H131Fc RIIA基因在有镰状细胞病和流感嗜血杆菌b型感染病史的黑人儿童中高表达，而在肺炎链球菌感染者中无显著差异。(儿科杂志1996；128：813-9)
OBJECTIVEDespite penicillin prophylaxis and vaccination, infection with encapsulated organisms remains a leading cause of morbidity and death in children with sickle cell disease. The role of Fc receptors in the clearance of encapsulated organisms is well documented. The His(H)-Arg(R) polymorphism at amino acid 131 of the FcγRIIA receptor alters binding affinity for human IgG2 and influences infection with encapsulated organisms in children without sickle cell disease. We hypothesized that the genotype for high-affinity human IgG2 binding (H/H131) is underrepresented in children with sickle cell disease who had encapsulated organism infection.DESIGNWe studied 60 black children with sickle cell disease from four participating centers who had a history of encapsulated organism infection. Genomic DNA from peripheral blood was subjected to amplification by polymerase chain reaction and to sequence analysis for identification of the FcγRIIA genotype, and the genotype distribution was then compared with our data from ethnically matched control subjects.RESULTSContrary to our hypothesis, the H/H131genotype was over represented in all individuals (p = 0.046) and in particular in the 11 individuals with a history of Haemophilus influenzae type b infection (64% H/H131, 27% H/R131, 9% R/R131; p = 0.002), in comparison with ethnically matched control subjects (14% H/H131, 60% H/R131, 26% R/R131). In the 51 individuals with a history of Streptococcus pneumoniae infection, the genotype distribution was not statistically significantly different from that of the control population.CONCLUSIONSThe H/H131FcγRIIA genotype is overrepresented in black children with sickle cell disease and a history of H. influenzae type b infection but not in those with S. pneumoniae infection. (J PEDIATR 1996;128:813-9)