DOI: 10.1111/petr.70020 ISSN: 1397-3142
A Patient With NEMO Deficiency, Disseminated M. szulgai, and Post‐HSCT Inflammatory Disease
Ayelet Rosenthal, Alka Goyal, Sharon F. Chen, David B. Lewis, Ami Shah 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
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.