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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.

Acute liver failure in children is a rare life-threatening disease and has many causes. It is known that neuroblastoma amplified sequence (NBAS, NM_015909) gene defects can cause infantile liver failure syndrome-2 (ILFS-2). NBAS is mapped to chromosome 2p24.3, containing 52 exons.Neuroblastoma-amplified gene protein (NBAS, NP_056993) encoded by NBAS gene includes two leucine zipper domains, a ribosomal protein S14 motif and a Sec39-like domain, involved in Golgi-to-endoplasmic reticulum retrograde transport. The function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed: 19369418). 1 NBAS mutations have been found in a multisystem disease affecting the liver, eye, immune system, connective tissue, and bone. In this paper, the clinical data of a child with acute liver failure were analyzed, combined with peripheral lymphocyte subsets analysis, next-generation sequencing (NGS), gene sequencing, and other laboratory methods, to diagnose ILFS-2, which can be caused by human herpesvirus-6 (HHV-6) infection, drug-induced, and NBAS gene mutation. The current findings may improve our understanding of the molecular mechanism of pediatric acute liver failure.

Mycobacterium tuberculosis infection is still a major global public health problem. Presently the only tuberculosis (TB) vaccine available is Bacille Calmette-Guérin (BCG), although it fails to adequately protect against pulmonary TB in adults. To solve this problem, the development of a new effective vaccine is urgently desired. BCG-prime DNA-booster vaccinations strategy has been shown to induce greater protection against tuberculosis (TB) than BCG alone. Some studies have demonstrated that the two genes (Rv1769 and Rv1772) are excellent T-cell antigens and could induce T-cell immune responses. In this research, we built BCG-C or BCG-P prime-recombination plasmid PcDNA3.1-Rv1769 or PcDNA3.1-Rv1772 boost vaccinations strategy to immunize BALB/c mice and evaluated its immunogenicity. The data suggests that the BCG-C+3.1-72 strategy could elicit the most long-lasting and strongest Th1-type cellular immune responses and the BCG-C+3.1-69 strategy could induce the high level CD8+ T-cell response at certain time points. These findings support the ideas that the prime-boost strategy as a combination of vaccines may be better than a single vaccine for protection against tuberculosis.

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