The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor

Yike Jiang; Mihail Firan; Sarada L Nandiwada; Anaid Reyes; Rebecca A Marsh; Tiphanie P Vogel; Joud Hajjar

doi:10.1155/2020/8841571

The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor

Case Reports Immunol. 2020 Aug 26:2020:8841571. doi: 10.1155/2020/8841571. eCollection 2020.

Authors

Yike Jiang¹, Mihail Firan², Sarada L Nandiwada³, Anaid Reyes¹, Rebecca A Marsh⁴, Tiphanie P Vogel¹, Joud Hajjar³

Affiliations

¹ Texas Children's Hospital and Baylor College of Medicine, Department of Pediatrics, Section of Rheumatology, Houston, TX, USA.
² Texas Children's Hospital and Baylor College of Medicine, Department of Pathology and Immunology, Houston, TX, USA.
³ Texas Children's Hospital and Baylor College of Medicine, Department of Pediatrics, Section of Immunology, Allergy and Retrovirology, Houston, TX, USA.
⁴ 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 immune dysregulation, lymphoproliferation, dysgammaglobulinemia, and lymphoma. Early childhood mortality from overwhelming inflammation is expected in most patients. The only curative therapy is hematopoietic stem cell transplant (HSCT); however, whether to perform HSCT on an asymptomatic patient remains debatable. This uncertainty arises because the natural history of XLP1 patients without transplantation is not clear. In this case report, we present the natural history of XLP1 in a 43-year-old male patient 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 to manifestations of XLP1 decades later.

Publication types

Case Reports