Author/Authors :
Jiang, Yike Texas Children’s Hospital and Baylor College of Medicine - Department of Pediatrics - Section of Rheumatology - Houston - TX, USA , Reyes, Anaid Texas Children’s Hospital and Baylor College of Medicine - Department of Pediatrics - Section of Rheumatology - Houston - TX, USA , Vogel, Tiphanie P. Texas Children’s Hospital and Baylor College of Medicine - Department of Pediatrics - Section of Rheumatology - Houston - TX, USA , Firan, Mihail Texas Children’s Hospital and Baylor College of Medicine - Department of Pathology and Immunology - Houston - TX, USA , Nandiwada, Sarada L. Texas Children’s Hospital and Baylor College of Medicine, Department of Pediatrics - Section of Immunology - Allergy and Retrovirology - Houston - TX, USA , Hajjar, Joud Texas Children’s Hospital and Baylor College of Medicine, Department of Pediatrics - Section of Immunology - Allergy and Retrovirology - Houston - TX, USA , Marsh, Rebecca A. Cincinnati Children’s Hospital Medical Center and University of Cincinnati - Department of Pediatrics - Section of Bone Marrow Transplantation and Immune Deficiency - Cincinnati - OH, USA
Abstract :
X-linked lymphoproliferative disease (XLP1) is a rare primary immunodeficiency characterized by EBV-triggered immunedysregulation, lymphoproliferation, dysgammaglobulinemia, and lymphoma. Early childhood mortality from overwhelminginflammation is expected in most patients. (e only curative therapy is hematopoietic stem cell transplant (HSCT); however,whether to perform HSCTon an asymptomatic patient remains debatable. (is uncertainty arises because the natural history ofXLP1patientswithouttransplantationisnotclear.Inthiscasereport,wepresentthenaturalhistoryofXLP1ina43-year-oldmalepatient who did not receive HSCT. We also review the literature on untransplanted XLP1 patients who lived into mid-adulthood.Despite surviving childhood presentations that are typically fatal, we found that these rare patients remain susceptible tomanifestations of XLP1 decades later.
Keywords :
Natural History , X-Linked Lymphoproliferative Disease (XLP1) , Lessons from a Long-Term Survivor , HSCT
