Hemophagocytic syndrome associated with Mycobacterium bovis in a patient with X-SCID: a case report

Abstract

Background Mycobacterium bovis could infect patients with immunodeficiency or immunosuppressive conditions via Bacillus Calmette-Guérin (BCG) vaccination. Tuberculosis-related hemophagocytic syndrome (HPS) is reported, but not HPS caused by Mycobacterium bovis in children. Case presentation A 4-month Chinese boy presented fever and cough. The initial laboratory investigation showed the lymphocyte count of 0.97 × 109/L, which decreased gradually. HPS was diagnosed based on the test results that fulfilled the HLH-2004 criteria. In addition, Mycobacterium tuberculosis complex was detected from his peripheral blood via metagenomic next-generation sequencing (mNGS) and M. bovis was identified by polymerase chain reaction-reverse dot blot (PCR-RDB). Thus, the patient was treated with Isoniazid, Rifampin, and Pyrazinamide, but not improved. However, parents refused to accept further therapy, and was discharged on the day 12 of admission. To confirm the pathogenesis, genetic analysis was performed. Mutation in the interleukin-2 receptor subunit gamma gene: Exon 6: c.854G > A; p. Arg285Gln was detected in the patient and the mother, which could underlie X-linked severe combined immunodeficiency. Conclusions A boy with X-SCID was diagnosed with M. bovis-associated HPS, emphasizing that X-SCID should be considered when M. bovis is detected in a male infant with low lymphocyte counts.

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

“…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 ).…”

“…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 ).…”

Tuberculosis infection related hemophagocytic lymphohistiocytosis diagnosed in patient with GZMB mutation: A case report and literature review

“…In our review of literature, by the end of April 2022, 9 cases of infection related HLH applying mNGS to identify underlying pathogenic microorganisms have been published (Table 3), [18][19][20][21][22][23][24][25][26] our case is listed in the table as well. The age of patients range from 4-month-old to 49 years old, and their median age is 31 years old.…”

The hyperinflammatory spectrum: from defects in cytotoxicity to cytokine control

“…Thus, the study of other IEI associated with HLH provides data on the respective contributions of leukocyte subsets to hyperinflammatory diseases. In addition to rare complications of CGD and SCID (146,147), rare cases of HLH have been also reported among patients with DiGeorge syndrome and Wiskott-Aldrich syndrome (148, 149).…”