Two Clonally Distinct B-Cell Lymphomas Reveal the Diagnosis of XLP1 in a Male Child and His Asymptomatic Male Relatives: Case Report and Review of the Literature

Abstract

X-linked lymphoproliferative disease type 1 (XLP1) is a primary immunodeficiency disorder caused by pathogenic variants in the SH2D1A gene (SH2 domain containing protein 1A). Patients with XLP1 may present acutely with fulminant infectious mononucleosis, hemophagocytic lymphohistiocytosis, and/or B-cell non–Hodgkin lymphoma (B-NHL). We report a boy who developed 2 clonally distinct B-NHL 4 years apart and was found to have previously unrecognized XLP1. The report highlights the importance of clonal analysis and XLP1 testing in males with presumed late recurrences of B-NHL, and the role of allogeneic stem cell transplant (allo-SCT) in XLP1 patients and their affected male relatives.

Burkitt lymphoma after solid‐organ transplant: Treatment and outcomes in the paediatric PTLD collaborative

“…In BL, relapses beyond 1 year are rare and should raise suspicion of an underlying predisposing condition such as XLP1 and other primary or acquired immunodeficiencies 37–40 . On the other hand, there are no reports of two consecutive BLs in solid‐organ transplant recipients.…”