BACKGROUND A leukocyte adhesion defect(LAD) is a rare primary immunodeficiency disorder. LAD type 1(LAD-1) is the most common, which is caused by ITGB2 mutation resulting in dysfunction of β2 integrin, which impairs ...BACKGROUND A leukocyte adhesion defect(LAD) is a rare primary immunodeficiency disorder. LAD type 1(LAD-1) is the most common, which is caused by ITGB2 mutation resulting in dysfunction of β2 integrin, which impairs leukocyte adherence to the endothelium.CASE SUMMARY The first two cases of LAD-1 in Thailand presented with recurrent omphalitis, soft tissue infection, marked leukocytosis, and neutrophilia. One patient experienced delayed umbilical cord separation. Mutation analysis was performed by direct DNA sequencing of the ITGB2 gene. The results revealed two novel homozygous missense mutations, c.920C>T(p.Leu307Pro) in exon 8 and c.758G>A(p.Arg-253His) in exon 7, and one novel homozygous nonsense mutation, c.262C>T(p.Gln88Ter) in exon 4, in the genomic DNA of the first and second patients, respectively. Heterozygous mutations were identified in the parents of both patients, suggesting a carrier status. The patients were administered intravenous antibiotics for infections with good clinical responses. Hematopoietic stem cell transplantation could not be performed due to the unavailability of matched donors. However, a significant decline in infections was observed after antibiotic prophylaxis. Several follow-up visits were conducted for both patients. They are currently 6 years old.CONCLUSION Molecular analysis is essential for definitive diagnosis, early treatment implementation, and prevention of LAD-1 in future pregnancy.展开更多
目的考察接枝不同官能团(-COOH、-OH、两性基团)的聚对苯二甲酸丁二醇酯(PBT)膜对血小板黏附及血小板功能的影响,选择适用于过滤去除浓缩血小板中白细胞的材料。方法利用紫外改性的方法,将不同单体包括丙烯酸(AA)、丙烯酸羟乙酯(HEA)和N...目的考察接枝不同官能团(-COOH、-OH、两性基团)的聚对苯二甲酸丁二醇酯(PBT)膜对血小板黏附及血小板功能的影响,选择适用于过滤去除浓缩血小板中白细胞的材料。方法利用紫外改性的方法,将不同单体包括丙烯酸(AA)、丙烯酸羟乙酯(HEA)和N-(3-磺丙基)-N-甲基丙烯酸基氧乙基-N,N-二甲基铵内铵盐(SMDB)接枝到PBT表面,得到接枝不同官能团的PBT膜,包括PBT-AA(-COOH)、PBT-HEA(-OH)、PBT-SMDB(两性基团);通过傅里叶红外光谱、水接触角及表面粗糙度等指标对改性PBT的理化性能做表征,采用扫描电镜观察改性PBT对血小板的黏附,并通过检测PBT改性前后的血小板聚集率、低渗休克相对变化、CD62p表达率等指标,考察改性PBT对血小板功能的影响。结果在红外光谱的1 047和1 043 cm-1处出现了C-O-C的弯曲振动峰和O=S=O的对称伸缩振动峰,提示HEA和SMDB接枝到了PBT膜表面。扫描电镜显示:未改性的PBT膜表面黏附的血小板数明显多于改性PBT膜表面,且可以观察到明显的伪足。血小板黏附数在接枝不同官能团的PBT膜表面顺序为:-COOH>两性基团>-OH。未改性PBT组(n=6)与对照组(未接触材料的血小板)(n=6)比较:血小板最大聚集率(%)为87.22±2.10 vs 82.36±2.11,低渗休克相对变化率(%)为79.33±1.27 vs 77.12±1.09,CD62p表达率增加(%)为9.78±0.58 vs 17.45±1.25(P<0.05)。在接枝不同官能团的改性PBT膜中,PBT-HEA(n=6)对血小板聚集和血小板活化等功能影响最小[血小板最大聚集率(93.34±1.45)%、血小板低渗休克相对变化率(81.26±1.48)%、CD62p表达率(12.51±0.85)%]。结论表面接枝HEA的聚酯对血小板的黏附及功能影响明显小于接枝其他官能团的材料,或可作为用于浓缩血小板过滤去除白细胞的新材料。展开更多
基金supported by Phramongkutklao College of Medicine
文摘BACKGROUND A leukocyte adhesion defect(LAD) is a rare primary immunodeficiency disorder. LAD type 1(LAD-1) is the most common, which is caused by ITGB2 mutation resulting in dysfunction of β2 integrin, which impairs leukocyte adherence to the endothelium.CASE SUMMARY The first two cases of LAD-1 in Thailand presented with recurrent omphalitis, soft tissue infection, marked leukocytosis, and neutrophilia. One patient experienced delayed umbilical cord separation. Mutation analysis was performed by direct DNA sequencing of the ITGB2 gene. The results revealed two novel homozygous missense mutations, c.920C>T(p.Leu307Pro) in exon 8 and c.758G>A(p.Arg-253His) in exon 7, and one novel homozygous nonsense mutation, c.262C>T(p.Gln88Ter) in exon 4, in the genomic DNA of the first and second patients, respectively. Heterozygous mutations were identified in the parents of both patients, suggesting a carrier status. The patients were administered intravenous antibiotics for infections with good clinical responses. Hematopoietic stem cell transplantation could not be performed due to the unavailability of matched donors. However, a significant decline in infections was observed after antibiotic prophylaxis. Several follow-up visits were conducted for both patients. They are currently 6 years old.CONCLUSION Molecular analysis is essential for definitive diagnosis, early treatment implementation, and prevention of LAD-1 in future pregnancy.
文摘目的考察接枝不同官能团(-COOH、-OH、两性基团)的聚对苯二甲酸丁二醇酯(PBT)膜对血小板黏附及血小板功能的影响,选择适用于过滤去除浓缩血小板中白细胞的材料。方法利用紫外改性的方法,将不同单体包括丙烯酸(AA)、丙烯酸羟乙酯(HEA)和N-(3-磺丙基)-N-甲基丙烯酸基氧乙基-N,N-二甲基铵内铵盐(SMDB)接枝到PBT表面,得到接枝不同官能团的PBT膜,包括PBT-AA(-COOH)、PBT-HEA(-OH)、PBT-SMDB(两性基团);通过傅里叶红外光谱、水接触角及表面粗糙度等指标对改性PBT的理化性能做表征,采用扫描电镜观察改性PBT对血小板的黏附,并通过检测PBT改性前后的血小板聚集率、低渗休克相对变化、CD62p表达率等指标,考察改性PBT对血小板功能的影响。结果在红外光谱的1 047和1 043 cm-1处出现了C-O-C的弯曲振动峰和O=S=O的对称伸缩振动峰,提示HEA和SMDB接枝到了PBT膜表面。扫描电镜显示:未改性的PBT膜表面黏附的血小板数明显多于改性PBT膜表面,且可以观察到明显的伪足。血小板黏附数在接枝不同官能团的PBT膜表面顺序为:-COOH>两性基团>-OH。未改性PBT组(n=6)与对照组(未接触材料的血小板)(n=6)比较:血小板最大聚集率(%)为87.22±2.10 vs 82.36±2.11,低渗休克相对变化率(%)为79.33±1.27 vs 77.12±1.09,CD62p表达率增加(%)为9.78±0.58 vs 17.45±1.25(P<0.05)。在接枝不同官能团的改性PBT膜中,PBT-HEA(n=6)对血小板聚集和血小板活化等功能影响最小[血小板最大聚集率(93.34±1.45)%、血小板低渗休克相对变化率(81.26±1.48)%、CD62p表达率(12.51±0.85)%]。结论表面接枝HEA的聚酯对血小板的黏附及功能影响明显小于接枝其他官能团的材料,或可作为用于浓缩血小板过滤去除白细胞的新材料。
