title: Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.
abstract: We report an adult male with 22q11.2 deletion syndrome and a germline BRCA2 mutation who developed T-cell monoclonal lymphoid proliferation involving the skin and a polyclonal proliferation of a retroperitoneal lymph node without any identifiable infectious and inflammatory causes. This is the first report of reactive lymphoid hyperplasia in the setting of co-occurrence of 22q11.2 deletion syndrome and a BRCA2 mutation. Further cases with a similar presentation should be reported and studies should be directed to identify the possible mechanisms involved.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27712, USA.
authors.forename: Aravindhan
authors.initials: A
authors.lastname: Veerapandiyan
authors.forename: Ivan Kingyue
authors.initials: IK
authors.lastname: Chinn
authors.forename: Kelly
authors.initials: K
authors.lastname: Schoch
authors.forename: Kristin A
authors.initials: KA
authors.lastname: Maloney
authors.forename: Vandana
authors.initials: V
authors.lastname: Shashi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D024682:BRCA2 Protein / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D006801:Humans; D008198:Lymph Nodes / Q000378:metabolism / Q000473:pathology; D008297:Male; D009154:Mutation; D019310:Pseudolymphoma / Q000473:pathology*; D012867:Skin / Q000378:metabolism / Q000473:pathology; D013577:Syndrome; D055815:Young Adult
chemical_list: D024682:BRCA2 Protein