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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
- Source :
- Journal of Pediatric Hematology/Oncology. 43:e1210-e1213
- Publication Year :
- 2021
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2021.
-
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.
- Subjects :
- Male
Lymphoma, B-Cell
Adolescent
Clonal analysis
Asymptomatic
Lymphohistiocytosis, Hemophagocytic
immune system diseases
hemic and lymphatic diseases
medicine
Humans
Signaling Lymphocytic Activation Molecule Associated Protein
Child
B cell
Hemophagocytic lymphohistiocytosis
business.industry
Hematology
Prognosis
medicine.disease
Lymphoproliferative Disorders
Pedigree
Lymphoma
medicine.anatomical_structure
Oncology
Child, Preschool
Mutation
Pediatrics, Perinatology and Child Health
Immunology
Primary immunodeficiency
Female
Lymphoproliferative disease
Stem cell
medicine.symptom
business
Subjects
Details
- ISSN :
- 10774114
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- Journal of Pediatric Hematology/Oncology
- Accession number :
- edsair.doi.dedup.....40a316bb76fe907a26de4af0b3d01974