Iglesias Cardenas Fiorella, Agarwal Archana M, Vagher Jennie, Maese Luke, Fluchel Mark, Afify Zeinab
Department of Pediatrics, University of Utah and Primary Children's Hospital.
Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York City, NY.
J Pediatr Hematol Oncol. 2021 Nov 1;43(8):e1210-e1213. doi: 10.1097/MPH.0000000000002049.
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.
X连锁淋巴增生性疾病1型（XLP1）是一种由SH2D1A基因（含SH2结构域蛋白1A）的致病性变异引起的原发性免疫缺陷病。XLP1患者可能急性出现暴发性传染性单核细胞增多症、噬血细胞性淋巴组织细胞增生症和/或B细胞非霍奇金淋巴瘤（B-NHL）。我们报告了一名男孩，他在4年间先后发生了2种克隆性不同的B-NHL，并且被发现此前未被识别出患有XLP1。该报告强调了对疑似B-NHL晚期复发的男性进行克隆分析和XLP1检测的重要性，以及异基因干细胞移植（allo-SCT）在XLP1患者及其受影响的男性亲属中的作用。
