title: TACI mutation with invasive polyclonal CD8+ T-cell lymphoproliferation in a patient with common variable immunodeficiency.
abstract: Mutations of the gene encoding the TNF receptor family member transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI), TNFSRF13B, have recently been described in patients with common variable immunodeficiency (CVID). We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. Although lymphoproliferation is well described in CVID, the key features in this patient included the T-cell origin of the lymphoproliferation, its polyclonal nature, its infiltration into multiple organs, and the presence of the TACI gene mutation.
authors.affiliation: Immunology Unit, Westmead Hospital, Westmead, Sydney, NSW, Australia.
authors.forename: Lucinda J
authors.initials: LJ
authors.lastname: Berglund
authors.forename: Graham J
authors.initials: GJ
authors.lastname: Jones
authors.forename: Rajmohan
authors.initials: R
authors.lastname: Murali
authors.forename: David A
authors.initials: DA
authors.lastname: Fulcher
mesh_terms: D000328:Adult; D001483:Base Sequence; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology*; D017074:Common Variable Immunodeficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D018448:Models, Immunological; D017354:Point Mutation; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D053303:Transmembrane Activator and CAML Interactor Protein
chemical_list: D008565:Membrane Proteins; D018124:Receptors, Tumor Necrosis Factor; C108467:TNFRSF13B protein, human; D053303:Transmembrane Activator and CAML Interactor Protein; D004247:DNA