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

J Pediatr Hematol Oncol. 2021 Nov 1;43(8):e1210-e1213. doi: 10.1097/MPH.0000000000002049.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Lymphohistiocytosis, Hemophagocytic / diagnosis*
  • Lymphohistiocytosis, Hemophagocytic / genetics
  • Lymphohistiocytosis, Hemophagocytic / therapy
  • Lymphoma, B-Cell / genetics
  • Lymphoma, B-Cell / pathology*
  • Lymphoproliferative Disorders / diagnosis*
  • Lymphoproliferative Disorders / genetics
  • Lymphoproliferative Disorders / therapy
  • Male
  • Mutation*
  • Pedigree
  • Prognosis
  • Signaling Lymphocytic Activation Molecule Associated Protein / genetics*

Substances

  • SH2D1A protein, human
  • Signaling Lymphocytic Activation Molecule Associated Protein