title: Immunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemia.
abstract: We investigated regulatory variants of five cytokine genes [tumour necrosis factor (TNF)-alpha, interferon (IFN)-gamma, transforming growth factor (TGF)-beta, interleukin (IL)-6 and IL-10] in 40 Italian patients affected by paroxysmal nocturnal haemoglobinuria (PNH) and aplastic anaemia (AA). Genotypes associated with high production of TGF-beta and IFN-gamma were more frequent in patients than in controls. Genetic regulation of the immunological pathways involved in the pathogenesis of bone marrow failure is suggested.
authors.affiliation: Division of Haematology, IRCCS Ospedale Maggiore of Milan, Milan, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Fermo
authors.forename: P
authors.initials: P
authors.lastname: Bianchi
authors.forename: W
authors.initials: W
authors.lastname: Barcellini
authors.forename: P
authors.initials: P
authors.lastname: Pedotti
authors.forename: C
authors.initials: C
authors.lastname: Boschetti
authors.forename: F
authors.initials: F
authors.lastname: Alfinito
authors.forename: A
authors.initials: A
authors.lastname: Cortelezzi
authors.forename: A
authors.initials: A
authors.lastname: Zanella
mesh_terms: D000741:Anemia, Aplastic / Q000235:genetics / Q000378:metabolism*; D016207:Cytokines / Q000235:genetics* / Q000378:metabolism; D005787:Gene Frequency; D005838:Genotype; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D016207:Cytokines