Severe Combined Immunodeficiency with BCG-osis by Salvage Therapy with Allogeneic Hematopoietic Stem Cell Transplantation: Cases Report and Literature Review

Strategic Insights -

Researchers from First People's Hospital recently reported two cases of severe combined immunodeficiency (SCID) in pediatric patients who received allogeneic hematopoietic stem cell transplantation (allo-HSCT) for SCID combined with Bacillus Calmette-Guerin (BCG) disease. The study highlights the importance of early recognition and intervention to prevent severe complications in patients with SCID and BCG-osis. According to the researchers, patients with SCID have severe defects in cellular and humoral immunity, and genetic screening at birth can help identify such patients. The BCG vaccination should be delayed in cases of SCID, and the sole curative option for SCID is HSCT, which can achieve immune reconstitution when performed early on and improve the survival rate.

Key Takeaways:

  • Two pediatric cases of SCID combined with BCG-osis were reported, where patients received salvage therapy with allo-HSCT.
  • Patient 1 presented with SCID combined with disseminated BCG-osis and underwent HSCT after 30 days of anti-tuberculosis therapy, resulting in recurrence of tuberculosis infection and death due to multi-organ failure and disseminated intravascular coagulation.
  • Patient 2 presented with SCID combined with disseminated BCG-osis after HSCT, responded well to antituberculosis drugs, and successfully completed a year and a half of anti-tuberculosis treatment.
  • Genetic screening at birth can help identify patients with SCID, and BCG vaccination should be delayed in such cases.
  • Allo-HSCT is the sole curative option for SCID, achieving immune reconstitution when performed early on and improving the survival rate.
  • The cases reported highlight the need for effective management of SCID and BCG-osis through early recognition and timely intervention.

Statistics:

  • 83 days: The time it took for the tuberculosis infection to recur in Patient 1 after transplantation.
  • 591 days: The duration of post-transplant treatment in Patient 2, after which the anti-tuberculosis regimen was discontinued.
  • 30 days: The duration of anti-tuberculosis therapy before HSCT in Patient 1.
  • 18 months: The duration of anti-tuberculosis treatment completed by Patient 2.

Sources:

  • Severe combined immunodeficiency with BCG-osis by salvage therapy with allogeneic hematopoietic stem cell transplantation: cases report and literature review. (BMC Pediatrics - https://bmcpediatr.biomedcentral.com)
  • First People's Hospital of Xiaogan
  • BMC Pediatrics
  • https://doi-org.sdpl.idm.oclc.org/10.1186/s12887-025-06127-0