Hemophagocytic syndrome associated with Mycobacterium bovis in a patient with X-SCID: a case report
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CASE REPORT
Open Access
Hemophagocytic syndrome associated with Mycobacterium bovis in a patient with XSCID: a case report Buyun Shi1†, Ming Chen2†, Zhi Xia1, Shuna Xiao1, Wen Tang1, Chenguang Qin1, Ying Cheng1, Tao Huang1, Chengjiao Huang1, Yong Li1 and Hui Xu1*
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. Keywords: X-SCID, IL2RG, Hemophagocytic syndrome, Mycobacterium bovis
Background Hemophagocytic syndrome (HPS) is a rare life-threatening disease, characterized by overactive immune system. Primary HPS is caused by mutations in genes, such as PFR1, UNC13D, and STX11, while secondary HPS is triggered by variety of conditions and may occur at any age [1]. The most common causes of secondary HPS are viral * Correspondence: [email protected] Buyun Shi and Ming Chen are first authors. 1 Department of Pediatric Intensive Care Unit (PICU), Maternal and Child Health Hospital of Hubei Province (Women and Children’s Hospital of Hubei Province), NO.745 Wu LuoRoad, Hongshan District, Wuhan City 430070, Hubei Province, China Full list of author information is available at the end of the article
infection, bacterial infection, and autoimmune disease. However, HPS induced by Mycobacterium tuberculosis complex infection is extremely rare, and HPS related to M. bovis in children is not yet reported [2, 3]. X-linked severe combined immunodeficiency (X-SCID) is also a rare, lifethreatening immunodeficiency disease caused by genes mutations [4]. Thus, an extremely rare case of patient with X-SCID also presenting HPS due to M. bovis has been reported in this study.
Case presentation A 4-month 3-day old Chinese boy was admitted to Maternal and Child Health Hospital of Hubei Province
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