title: Patients with Hereditary Hemorrhagic Telangectasia (HHT) exhibit a deficit of polymorphonuclear cell and monocyte oxidative burst and phagocytosis: a possible correlation with altered adaptive immune responsiveness in HHT.
abstract: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disease characterized by mutations occurring in the endoglin and ALK-1, two receptors of transforming growth factor-beta1. From a pathogenic point of view, a possible involvement of the immune system in HHT has been suggested since a mononuclear cell infiltrate was found around the area of telangiectases. Up until now, no information has been available about the role played by leukocytes in HHT and the mechanisms elicited by secretion of their mediators. However, the fact that a deficit of adaptive immunity in HHT has been reported in a companion paper in this issue will represent a great contribution to the understanding of HHT pathogenesis. The purpose of this study was to evaluate whether patients with HHT manifest also alterations in the innate immune response. Therefore, the phenotype of T, B and natural killer lymphocytes, serum immunoglobulin levels, phagocytosis and oxidative burst activity exerted by polymorphonuclear cells (PMN) and monocytes (MO) were analyzed in 22 patients. Twenty individuals demonstrated single or multiple deficits of PMN and MO functions, while the immunophenotype of lymphocytes and serum concentrations of immunoglobulins were normal. To the best of our knowledge, this is the first demonstration of a reduction in PMN and MO functions in HHT, thus suggesting a higher susceptibility to infectious complications in these patients. The relationship between innate immune deficits and T helper 1 and monocyte-derived cytokine dysfunction in HHT, as previously reported, is discussed.
authors.affiliation: Department of Public Health and Internal Medicine, University of Bari, Bari, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Cirulli
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Loria
authors.forename: Porzia
authors.initials: P
authors.lastname: Dambra
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Serio
authors.forename: Maria T
authors.initials: MT
authors.lastname: Ventura
authors.forename: Luigi
authors.initials: L
authors.lastname: Amati
authors.forename: Emilio
authors.initials: E
authors.lastname: Jirillo
authors.forename: Carlo
authors.initials: C
authors.lastname: Sabbà
mesh_terms: D000328:Adult; D000368:Aged; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D005260:Female; D006801:Humans; D007070:Immunoglobulin A / Q000378:metabolism; D007074:Immunoglobulin G / Q000378:metabolism; D007075:Immunoglobulin M / Q000378:metabolism; D007694:Killer Cells, Natural / Q000276:immunology / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009000:Monocytes / Q000276:immunology* / Q000378:metabolism*; D009504:Neutrophils / Q000276:immunology* / Q000378:metabolism*; D010587:Phagocytosis / Q000276:immunology* / Q000502:physiology*; D010641:Phenotype; D015203:Reproducibility of Results; D016897:Respiratory Burst / Q000502:physiology*; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000276:immunology* / Q000378:metabolism*
chemical_list: D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M