一名患有X连锁高IgM综合征并伴有急性呼吸窘迫综合征的儿童接受择期骨髓移植。

Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome.

作者信息

Leone V, Tommasini A, Andolina M, Runti G, De Vonderweid U, Campello C, Notarangelo L D, Ventura A

机构信息

Department of Pediatrics IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy.

出版信息

Bone Marrow Transplant. 2002 Jul;30(1):49-52. doi: 10.1038/sj.bmt.1703581.

DOI:10.1038/sj.bmt.1703581

PMID:12105778

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7091769/

Abstract

We describe a 10-month-old boy diagnosed with X-linked hyper-IgM syndrome (XHIM) after suffering from life-threatening acute respiratory distress syndrome (ARDS) caused by Pneumocystis carinii pneumonia (PCP), although his previous clinical history and first level laboratory tests investigating immunological function did not indicate immunodeficiency. When the patient's overall condition was good, elective bone marrow transplantation from an HLA-matched older brother was performed successfully. We describe how correct diagnosis and successful treatment were made possible thanks to the involvement of a network of specialists.

摘要

我们描述了一名10个月大的男孩，他在患有由卡氏肺孢子虫肺炎（PCP）引起的危及生命的急性呼吸窘迫综合征（ARDS）后，被诊断为X连锁高IgM综合征（XHIM），尽管他之前的临床病史和初步的免疫功能实验室检查并未显示免疫缺陷。当患者整体状况良好时，成功进行了来自人类白细胞抗原（HLA）匹配的哥哥的择期骨髓移植。我们描述了由于一个专家网络的参与，如何实现了正确的诊断和成功的治疗。