Immunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemia. 2004

E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
Division of Haematology, IRCCS Ospedale Maggiore of Milan, Milan, Italy.

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.

UI MeSH Term Description Entries
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006457 Hemoglobinuria, Paroxysmal A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins. Paroxysmal Cold Hemoglobinuria,Paroxysmal Nocturnal Hemoglobinuria,Marchiafava-Micheli Syndrome,Paroxysmal Hemoglobinuria,Paroxysmal Hemoglobinuria, Cold,Paroxysmal Hemoglobinuria, Nocturnal,Cold Paroxysmal Hemoglobinuria,Hemoglobinuria, Cold Paroxysmal,Hemoglobinuria, Nocturnal Paroxysmal,Hemoglobinuria, Paroxysmal Cold,Hemoglobinuria, Paroxysmal Nocturnal,Marchiafava Micheli Syndrome,Nocturnal Paroxysmal Hemoglobinuria,Syndrome, Marchiafava-Micheli
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000741 Anemia, Aplastic A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Anemia, Hypoplastic,Aplastic Anaemia,Aplastic Anemia,Anaemia, Aplastic,Aplastic Anaemias,Aplastic Anemias,Hypoplastic Anemia,Hypoplastic Anemias
D016207 Cytokines Non-antibody proteins secreted by inflammatory leukocytes and some non-leukocytic cells, that act as intercellular mediators. They differ from classical hormones in that they are produced by a number of tissue or cell types rather than by specialized glands. They generally act locally in a paracrine or autocrine rather than endocrine manner. Cytokine

Related Publications

E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
October 1978, Clinics in haematology,
E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
January 1967, Acta haematologica,
E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
March 1967, British journal of haematology,
E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
May 2013, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology,
E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
January 1971, The Medical journal of Australia,
E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
September 2017, British journal of haematology,
E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
August 2022, The Lancet. Haematology,
E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
May 1997, British journal of haematology,
E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
July 2001, The Journal of the Association of Physicians of India,
E Fermo, and P Bianchi, and W Barcellini, and P Pedotti, and C Boschetti, and F Alfinito, and A Cortelezzi, and A Zanella
April 1999, Leukemia & lymphoma,
Copied contents to your clipboard!