title: Multiorgan infiltration by CD8+ T cells and 1p;16p translocation in a patient with hypogammaglobulinemia and a reduced number of B cells.
abstract: Common variable immunodeficiency (CVID) disorders are the most common form of clinically significant primary immunodeficiencies found in adults. There is now clear evidence that CVID includes a group of clinically and genetically heterogeneous conditions. In addition to recurrent infections, some patients are highly prone to granulomatous lesions. Rarely, CVID may be characterized by an increased number of circulating CD8+ T cells with tissue infiltration. We report a unique case of CVID associated with a sarcoidosis-like disease and polyclonal CD8+ T cell expansion with multiple tissue infiltration occurring in a subject with the chromosome translocation t(1;16). No sequence variant in TACI, APRIL, BAFF, ICOS or BTK genes was discovered. Cytometric analysis showed that the chemokine receptors expressed on peripheral and tissue CD8+ T cells are responsible for the tissue homing of the cells. Moreover, CD8+ T cells produced high amounts of IFN-γ, but not IL-4 and IL-17, with regular expression of the transcription factor Vav1. Genes coding for IL-32 and FRAP1, both involved in the regulation of memory T cell differentiation, are located in the translocation breakpoint. This suggests that a chromosomal abnormality plays a role in the clinical features of this phenotypic variant of CVID.
authors.affiliation: Immunoallergology Unit, Department of Biomedicine, AOU Careggi, Florence, Italy. vultaggioa@aou-careggi.toscana.it
authors.forename: Alessandra
authors.initials: A
authors.lastname: Vultaggio
authors.forename: Andrea
authors.initials: A
authors.lastname: Matucci
authors.forename: Mario Milco
authors.initials: MM
authors.lastname: D'Elios
authors.forename: Elena
authors.initials: E
authors.lastname: Andreucci
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giglio
authors.forename: Francesco
authors.initials: F
authors.lastname: Annunziato
authors.forename: Simonetta
authors.initials: S
authors.lastname: Zupo
authors.forename: Enrico
authors.initials: E
authors.lastname: Maggi
mesh_terms: D000328:Adult; D000361:Agammaglobulinemia / Q000235:genetics* / Q000276:immunology*; D001402:B-Lymphocytes / Q000276:immunology*; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology*; D017074:Common Variable Immunodeficiency / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008213:Lymphocyte Activation; D018655:Lymphocyte Count; D008297:Male; D014178:Translocation, Genetic