Dataset Information

Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.

ABSTRACT:

Rationale

With the progress of sequencing technology, an increasing number of atypical primary immunodeficiency (PID) patients have been discovered, including Janus kinase 3 (JAK3) gene deficiency.

Patient concerns

We report a patient who presented with chronic active Epstein-Barr virus (CAEBV) infection but responded poorly to treatment with ganciclovir.

Diagnoses

Next-generation sequencing (NGS) was performed, including all known PID genes, after which Sanger sequencing was performed to verify the results. Genetic analysis revealed that our patient had 2 novel compound heterozygous mutations of JAK3, a gene previously reported to cause a rare form of autosomal recessive severe combined immunodeficiency with recurrent infections. The p.H27Q mutation came from his father, while p. R222H from his mother. Thus, his diagnosis was corrected for JAK3-deficiency PID and CAEBV.

Interventions

Maintenance treatment of subcutaneous injection of recombinant human interferon ?-2a was given to our patient with 2?MU, 3 times a week.

Outcomes

Interferon alpha was applied and the EBV infection was gradually controlled and his symptoms ameliorated remarkably. Our patient is in good health now and did not have relapses.

Lessons

The diagnoses of PID should be taken into consideration when CAEBV patients respond poorly to conventional treatments. Good results of our patient indicate that interferon ?-2a may be an alternative treatment for those who are unwilling to accept hematopoietic stem cell transplantation (HSCT) like our patient. Literature review identified 59 additional cases of JAK3 deficiency with various infections.

SUBMITTER: Zhong L

PROVIDER: S-EPMC5662356 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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Publications

Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.

Zhong Linqing L Wang Wei W Ma Mingsheng M Gou Lijuan L Tang Xiaoyan X Song Hongmei H

Medicine 20171001 42

<h4>Rationale</h4>With the progress of sequencing technology, an increasing number of atypical primary immunodeficiency (PID) patients have been discovered, including Janus kinase 3 (JAK3) gene deficiency.<h4>Patient concerns</h4>We report a patient who presented with chronic active Epstein-Barr virus (CAEBV) infection but responded poorly to treatment with ganciclovir.<h4>Diagnoses</h4>Next-generation sequencing (NGS) was performed, including all known PID genes, after which Sanger sequencing w ...[more]

PMID: 29049190

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Project description:Tumor-Infiltrating Lymphocytes (TILs) are composed by several immune subpopulations including NK, NKT, Tab, Tgd and B cells. Although some of these cells can have antitumoral activities, there is also a large number of cells which are not tumor-specific,known as bystander cells. These cells may not have a direct role in the antitumoral response but could lead to a modulation of the immune response after time. Recent studies have described fatal encephalitis and myocarditis in cancer patients after immune checkpoint therapies, in which EBV-specific T cells may be involved. Since EBV is able to infect B cells and epithelial cells, both present in the primary tumor site, the first events of these fatal responses could be a consequence of a dysregulation of the immune system in the tumor microenvironment, although this have not been deeply studied. Thus, the main objectives of this study are (i) to use EBV-transformed B cells from the tumor site as a model to study the tumor-infiltrating EBV+ B cells and (ii) to use these EBV-derived B cells to study the relationship with autologous T cells isolated from the tumor site. T cells from TILs have been isolated from a triple negative breast cancer patient before neoadjuvancy and were expanded directly from the biopsy. A Patient-Derived Xenograft (PDX) generated from the breast tumor, progressed into a lymphocytic neoplasm. EBVtransformed B cells were obtained from this PDX (PDX-derived B cells). T Cell Receptor high-throughput sequencing has been used to monitor the clonotypes present in the different samples. We have found 43 clonotypes infiltrating the PDX-562 tissue and 18 of them were also present in the human biopsy or in the biopsy-derived T cell cultures. 5 of these sequences were found in one of the biopsy-derived T cells analyzed. Thus, PDXderived B cells have been used as antigen presenting cells to expand these cells. Few clonotypes were obtained after expansions, although the analysis of the middle CDR3 have revealed a similar pattern with the 18 sequences from the PDX sample. Furthermore, peptides presented by HLA have been eluted from PDX-derived B cells, followed by MS analysis. Peptides obtained derived from 31 different proteins and >40% are cancerrelated in terms of expression.

Dataset Information

Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.

Rationale

Patient concerns

Diagnoses

Interventions

Outcomes

Lessons

Publications

Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.

Similar Datasets

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