title: Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female.
abstract: X-linked lymphoproliferative (XLP) syndrome is a rare primary immune-deficiency disorder caused by mutations of the SH2D1A or XIAP genes. Males with the disorder are usually in good health until contracting Epstein-Barr virus (EBV) whereupon the majority of patients die from fulminant infectious mononucleosis, lymphoma or hypogammaglobulinaemia. This report describes a female carrier with an XLP phenotype who was retrospectively identified after her grandson died from the disorder. Subsequent genetic testing identified the patient's mother and affected maternal grandmother as XLP carriers. The family's medical records were significant. The proband had lymphoma at ages 2 and 8 and made a full recovery following treatment. Both the maternal grandmother and uncle died of non-Hodgkin's lymphoma. We were concerned that the XLP carrier mother may be predisposed to lymphoma if the normal X chromosome is skewed towards inactivation. The human androgen receptor assay detected random X chromosome inactivation in the carrier mother. EBV was not detected in the lymphoma tissues of the proband and his grandmother, confirming previous findings that EBV is not always associated with lymphoma in XLP. More significantly, our study highlights the importance of identifying XLP in families with a high incidence of lymphoma.
authors.affiliation: Department of Virology, LabPLUS, Auckland City Hospital, Auckland, New Zealand.
authors.forename: S-T
authors.initials: ST
authors.lastname: Woon
authors.forename: R
authors.initials: R
authors.lastname: Ameratunga
authors.forename: M
authors.initials: M
authors.lastname: Croxson
authors.forename: G
authors.initials: G
authors.lastname: Taylor
authors.forename: K
authors.initials: K
authors.lastname: Neas
authors.forename: E
authors.initials: E
authors.lastname: Edkins
authors.forename: P
authors.initials: P
authors.lastname: Browett
authors.forename: E
authors.initials: E
authors.lastname: Gane
authors.forename: S
authors.initials: S
authors.lastname: Munn
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007244:Infectious Mononucleosis / Q000150:complications; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008224:Lymphoma, Follicular / Q000150:complications*; D008228:Lymphoma, Non-Hodgkin / Q000150:complications / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein