Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis
Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis
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DOI：
10.1016/j.clim.2020.108365
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发表时间：
2020-04-01
影响因子：
8.6
通讯作者：
Alsultan, Abdulrahman
中科院分区：
文献类型：
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作者：
Essa, Mohammed F.;Elbashir, Enas;Alsultan, Abdulrahman
白细胞粘附缺陷III型（LAD-III）是由编码Kindlin-3的FERMT 3突变引起的，Kindlin-3调节整合素活化。LAD-III易于感染和出血。在某些病例中报告了石骨症。我们报告三个病人谁提出了恶性婴儿石骨症。1例反复感染，无1例出血。外显子组测序揭示了FERMT 3 c.1555C > T（p.Gln519Ter）的一种新的纯合突变。两名患者成功接受了来自匹配同胞的造血干细胞移植（HSCT），解决了骨硬化症。第3例患者在HSCT前继发于脓毒症死亡。我们的研究结果支持在发生危及生命的并发症之前对LAD-III进行早期HSCT。
Leukocyte adhesion deficiency type III (LAD-III) is caused by mutations in FERMT3 that encodes Kindlin-3 which regulates integrins activation. LAD-III predisposes to infections and bleeding. Osteopetrosis was reported in some cases. We report three patients who presented as malignant infantile osteopetrosis. One had recurrent infections and none had bleeding. Exome sequencing revealed a novel homozygous mutation in FERMT3 c.1555C > T (p.Gln519Ter). Two patients underwent successful hematopoietic stem cell transplant (HSCT) from matched siblings with resolution of osteopetrosis. The third patient died secondary to sepsis prior to HSCT. Our results support early HSCT in LAD-III prior to the occurrence of life-threatening complications.