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.
MeSH terms
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Adult
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Base Sequence
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CD8-Positive T-Lymphocytes / immunology*
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Common Variable Immunodeficiency / complications
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Common Variable Immunodeficiency / diagnosis
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Common Variable Immunodeficiency / genetics*
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Common Variable Immunodeficiency / immunology*
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DNA / genetics
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DNA Mutational Analysis
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Diagnosis, Differential
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Humans
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Lymphoproliferative Disorders / complications
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Lymphoproliferative Disorders / diagnosis
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Lymphoproliferative Disorders / genetics*
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Lymphoproliferative Disorders / immunology*
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Lymphoproliferative Disorders / pathology
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Male
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Membrane Proteins / genetics*
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Models, Immunological
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Point Mutation*
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Receptors, Tumor Necrosis Factor / genetics*
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Transmembrane Activator and CAML Interactor Protein
Substances
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Membrane Proteins
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Receptors, Tumor Necrosis Factor
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TNFRSF13B protein, human
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Transmembrane Activator and CAML Interactor Protein
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DNA