A Patient With NEMO Deficiency, Disseminated M. szulgai, and Post-HSCT Inflammatory Disease

Pediatr Transplant. 2025 Feb;29(1):e70020. doi: 10.1111/petr.70020.

Abstract

Background: Disseminated mycobacterium poses a significant risk for patients with NEMO deficiency. Hematopoietic stem cell transplant (HSCT) corrects the NEMO defect in hematopoietic cells thus treating the immunodeficiency.

Methods: We present a patient with NEMO deficiency who successfully underwent HSCT despite a disseminated Mycobacterium szulgai infection.

Results: Despite successful engraftment and resolution of the mycobacterium infection, he developed inflammatory disease leading to his death.

Conclusion: HSCT does not cure all aspects of the NEMO protein defect and posttransplant inflammatory diseases involving nonhematopoietic cell types may manifest clinically.

Keywords: Mycobacterium szulgai; NEMO; inflammatory disease; mycobacterium; nontuberculous mycobacteria; primary immunodeficiency; stem cell transplant.

Publication types

  • Case Reports

MeSH terms

  • Ectodermal Dysplasia
  • Fatal Outcome
  • Genetic Diseases, X-Linked
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • I-kappa B Kinase / deficiency
  • I-kappa B Kinase / genetics
  • Immunologic Deficiency Syndromes / complications
  • Inflammation
  • Male
  • Mycobacterium Infections, Nontuberculous
  • Primary Immunodeficiency Diseases / complications
  • Primary Immunodeficiency Diseases / therapy

Substances

  • IKBKG protein, human
  • I-kappa B Kinase

Supplementary concepts

  • NEMO mutation with immunodeficiency