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Review
. 2021 Nov 1;43(8):e1210-e1213.
doi: 10.1097/MPH.0000000000002049.

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

Fiorella Iglesias Cardenas  1   2 , Archana M Agarwal  3   4 , Jennie Vagher  5 , Luke Maese  1 , Mark Fluchel  1 , Zeinab Afify  1
Affiliations
Review

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

Fiorella Iglesias Cardenas et al. J Pediatr Hematol Oncol. .

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.

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Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Sandlund JT, Shurtleff SA, Onciu M, et al. Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms. Pediatr Blood Cancer. 2013;60:E85–E87.
    1. Schmid JP, Canioni D, Moshous D, et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood. 2011;117:1522–1529.
    1. Booth C, Schwartzberg PL. X-linked lymphoproliferative disease type 1 :a clinical and molecular. Perspective. 2018;9:666.
    1. Rezaei N, Mahmoudi E, Aghamohammadi A, et al. X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma. Br J Haematol. 2011;152:13–30.
    1. Masqué-Soler N, Szczepanowski M, Kohler CW, et al. Clinical and pathological features of Burkitt lymphoma showing expression of BCL2 - an analysis including gene expression in formalin-fixed paraffin-embedded tissue. Br J Haematol. 2015;171:501–508.

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