Case Report: Immune reconstitution inflammatory syndrome after hematopoietic stem cell transplantation for severe combined immunodeficiency

Liu, Shuangjun; Hong, Feng; Dai, Guorui; Wu, Jie; Qin, Maoquan; Mao, Huawei; Wang, Quan

doi:10.3389/fimmu.2022.960749

Cited by 7 publications

(5 citation statements)

References 17 publications

(23 reference statements)

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“…After anti-tuberculosis therapy and undergoing transplantation or gene therapy, four patients had achieved immunologic reconstitution. Unlike our case, which used mNGS combined with tNGS to detect M.bovis and found its drug resistance, most of the MTB reported in these literatures were detected by PCR, and no drug resistance genes were found ( Culic et al., 2004 ; Huang et al., 2006 ; Jaing et al., 2006 ; Bacalhau et al., 2011 ; Shi et al., 2020 ; Maron et al., 2021 ; Liu et al., 2022 ). The conventional etiological culture-based detection is time-consuming (generally 2–6 weeks) ( Assemie et al., 2020 ).…”

Section: Discussioncontrasting

confidence: 65%

“…We extracted the following details from each article: first author, vaccination, clinical manifestation, detection method, complication, therapy and outcome. We summarized a total of 7 articles from our literature search in Table 4 ( Culic et al., 2004 ; Huang et al., 2006 ; Jaing et al., 2006 ; Bacalhau et al., 2011 ; Shi et al., 2020 ; Maron et al., 2021 ; Liu et al., 2022 ).…”

Section: Case Presentationmentioning

confidence: 99%

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Assistance of next-generation sequencing for diagnosis of disseminated Bacillus Calmette-Guerin disease with X-SCID in an infant: a case report and literature review

Zhang,

Liao,

Zhu

et al. 2024

Front. Cell. Infect. Microbiol.

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Bacille Calmette-Guérin (BCG) is a live strain of Mycobacterium bovis (M.bovis) for use as an attenuated vaccine to prevent tuberculosis (TB) infection, while it could also lead to an infection in immunodeficient patients. M.bovis could infect patients with immunodeficiency via BCG vaccination. Disseminated BCG disease (BCGosis) is extremely rare and has a high mortality rate. This article presents a case of a 3-month-old patient with disseminated BCG infection who was initially diagnosed with hemophagocytic syndrome (HPS) and eventually found to have X-linked severe combined immunodeficiency (X-SCID). M.bovis and its drug resistance genes were identified by metagenomics next-generation sequencing (mNGS) combined with targeted next-generation sequencing (tNGS) in blood and cerebrospinal fluid. Whole exome sequencing (WES) revealed a pathogenic variant in the common γ-chain gene (IL2RG), confirming X-SCID. Finally, antituberculosis therapy and umbilical cord blood transplantation were given to the patient. He was successfully cured of BCGosis, and his immune function was restored. The mNGS combined with the tNGS provided effective methods for diagnosing rare BCG infections in children. Their combined application significantly improved the sensitivity and specificity of the detection of M.bovis.

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Section: Discussioncontrasting

confidence: 65%

Section: Case Presentationmentioning

confidence: 99%

Assistance of next-generation sequencing for diagnosis of disseminated Bacillus Calmette-Guerin disease with X-SCID in an infant: a case report and literature review

Zhang,

Liao,

Zhu

et al. 2024

Front. Cell. Infect. Microbiol.

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“…One illustrative case is that of a patient with severe combined immune deficiency (SCID) who developed disseminated M . bovis BCG infection as new immune cells engrafted following allogeneic hematopoietic stem cell transplant ( 103 ). It is possible that patients on ICIs who have subclinical active TB or who were treated for TB but still harbored live M .…”

Section: Discussionmentioning

confidence: 99%

A narrative review of the controversy on the risk of mycobacterial infections with immune checkpoint inhibitor use: does Goldilocks have the answer?

Vaddi,

Hulsebus,

O’Neill

et al. 2024

J Thorac Dis

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Background and Objective Immune checkpoint inhibitors (ICIs) have revolutionized oncologic treatment. Whether ICIs increase susceptibility to or provide protection against mycobacterial infections remains controversial. The objective of this narrative review is to summarize the literature on the link between ICI use and mycobacterial infections—tuberculosis and non-tuberculous mycobacterial (NTM) infections—and to critically discuss evidence linking ICIs with mycobacterial infections, the possible confounders, and, if indeed the ICIs predispose to such infections, the potential mechanisms of how this may occur. Methods We conducted a literature search on PubMed for relevant articles published from 2011 to current time [2024] utilizing specific keywords of “immune checkpoint inhibitors”, “programmed cell death protein-1”, “PD-1”, “programmed death-ligand 1”, “PD-L1”, “cytotoxic T-lymphocyte-associated protein-4”, or “CTLA-4” with that of “non-tuberculous mycobacterial lung disease”, “tuberculosis”, or “mycobacteria”. The bibliographies of identified papers were perused for additional relevant articles. Key Content and Findings Ex vivo studies using human cells indicate that ICIs would be salubrious for the host against mycobacteria. Yet, many case reports associate ICI use with mycobacterial infections, mostly tuberculosis. Potential confounders include immunosuppression from the cancer, concomitant use of immunosuppressive drugs, lung injury and distortion from chemotherapeutics or radiation, and reporting bias. Mice with genetic disruption of the programmed cell death protein-1 ( PD-1 ) gene are paradoxically more susceptible to Mycobacterium tuberculosis ( M. tuberculosis ). In contrast, mice administered neutralizing antibody to T cell immunoglobulin and mucin domain-containing protein 3 (TIM3) or knocked out for TIM3 gene have greater capacity to control an M. tuberculosis infection. We posit that hosts with greater baseline immunodeficiency are more likely to derive benefit from ICIs against mycobacterial infections than those with more intact immunity, where ICIs are more likely to be detrimental. Conclusions Studies are needed to test the hypothesis that ICIs may either protect or predispose to mycobacterial infections, depending on the baseline host immune status. Prospective studies are required of patients on ICIs that control for potential confounders as anecdotal case reports are insufficient to provide a causal link. Murine studies with ICIs are also required to corroborate or refute studies of mice with genetic disruption of an immune checkpoint.

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“…There were no positive results in cell cultures inoculated with CSF despite 2 attempts [ 15 , 16 ]. Following stem cell transplant, onset of whole-body fasciculations suggests that symptoms may have resulted from immune reconstitution and engraftment of new lymphocytes with reaction against poliovirus in the central nervous system—an observation seen to occur previously with other diseases [ 17 , 18 ]. There were no additional follow-up CSF samples.…”

Section: Discussionmentioning

confidence: 99%

Stem Cell Transplant in Immune-deficiency–associated Vaccine-derived Poliovirus

Ranchod,

Howard,

Roux

et al. 2024

Open Forum Infectious Diseases

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Patients with severe primary immunodeficiency are at risk for complications from live attenuated vaccines. Here, we report a case of a vaccine associated paralytic polio (VAPP) and Bacille Calmette-Guérin (BCG) disease in a 6-month-old girl with severe-combined immunodeficiency (SCID) due to homozygous recombinant activating gene 1 (RAG-1) deficiency. The patient was successfully treated with intravenous immunoglobulins and oral pocapavir for poliovirus, and anti-mycobacterial therapy for regional BCG disease, allowing stem cell transplant. Following transplantation, poliovirus type 3 with 13 mutations was detected from cerebrospinal fluid but not from stool, indicating ongoing viral evolution in the central nervous system despite pocapavir treatment. Clinical improvement and immune reconstitution allowed the patient to be successfully discharged with no further detection of poliovirus.

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Case Report: Immune reconstitution inflammatory syndrome after hematopoietic stem cell transplantation for severe combined immunodeficiency

Cited by 7 publications

References 17 publications

Assistance of next-generation sequencing for diagnosis of disseminated Bacillus Calmette-Guerin disease with X-SCID in an infant: a case report and literature review

Assistance of next-generation sequencing for diagnosis of disseminated Bacillus Calmette-Guerin disease with X-SCID in an infant: a case report and literature review

A narrative review of the controversy on the risk of mycobacterial infections with immune checkpoint inhibitor use: does Goldilocks have the answer?

Stem Cell Transplant in Immune-deficiency–associated Vaccine-derived Poliovirus

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