Allogeneic Hematopoietic Cell Transplantation Ameliorated Asymptomatic Granulomatous and Lymphocytic Interstitial Lung Disease in a Patient With XIAP Deficiency

J Pediatr Hematol Oncol. 2024 Mar 1;46(2):e191-e194. doi: 10.1097/MPH.0000000000002819. Epub 2024 Jan 22.


X-linked inhibitor of apoptosis protein (XIAP) deficiency is an inborn error of immunity (IEI). Allogeneic hematopoietic cell transplantation (HCT) is currently the only curative therapy available for XIAP deficiency. Granulomatous and lymphocytic interstitial lung disease (GLILD) is a common immune-related lung complication of IEIs. We present a 6-year-old boy with XIAP deficiency and GLILD. Computed tomography showed lung nodes but no symptoms. Before HCT, GLILD was not managed with immunosuppressive therapy, because he was asymptomatic. The HCT procedure was subsequently performed. The post-HCT course was uneventful; follow-up computed tomography on day 46 showed nodules had disappeared. HCT could potentially ameliorate GLILD like other inflammatory processes associated with the underlying IEIs.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Common Variable Immunodeficiency* / complications
  • Genetic Diseases, X-Linked*
  • Hematopoietic Stem Cell Transplantation* / methods
  • Humans
  • Lung Diseases, Interstitial* / etiology
  • Lung Diseases, Interstitial* / therapy
  • Lymphoproliferative Disorders* / complications
  • Lymphoproliferative Disorders* / therapy
  • Male
  • X-Linked Inhibitor of Apoptosis Protein / genetics


  • X-Linked Inhibitor of Apoptosis Protein
  • XIAP protein, human

Supplementary concepts

  • Lymphoproliferative Syndrome, X-Linked, 2