| Accession |
PRJCA020197 |
| Title |
Disseminated Bacillus Calmette-Guerin Disease Associated hemophagocytic syndrome in an infant With X-SCID: A Case Report and Literature Review |
| Relevance |
Medical |
| Data types |
Metagenome
|
| Organisms |
Mycobacterium tuberculosis complex
|
| Description |
Mycobacterium bovis could infect patients with immunodeficiency via BCG vaccination. Disseminated BCG disease was extremely rare with high mortality and difficult to be diagnosed. This article reports a case of a 3-month-old patient with disseminated BCG infection, which was initially diagnosed with HPS and eventually found to have X-linked severe combined immunodeficiency. Mycobacterium tuberculosis variant bovis BCG were identified by meta genomics next-generation sequencing (mNGS) combined with high-multiplex polymerase chain reaction(high-multiplex PCR)in blood and cerebrospinal fluid. Whole exome sequencing (WES) revealed a pathogenic variant in the common γ-chain gene (IL2RG) confirming X-SCID. According to the test results and clinical practice, antituberculosis therapy and umbilical cord blood transplantation was given. Finally the patient was free from recurrent infection. Fast and accurate diagnosis of pathogens is a prerequisite for improve survival rate. MNGS combined with high-multiplex PCR provides an effective means for diagnosing rare BCG infection in children. |
| Sample scope |
Multispecies |
| Release date |
2023-09-28 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| No funding support
|
|
|
|
|
|
| Submitter |
zhensheng
zhu (kukingzhu@qq.com)
|
| Organization |
Hugobiotech Beijing Co.,Ltd. |
| Submission date |
2023-09-28 |
