Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the expansion of a P/G-A mutated hematopoietic stem cell. An immune-mediated origin has been suggested for this disease. Because HLA genes represent a susceptibility factor for autoimmunity, we investigated HLA genotype in 42 Italian PNH patients compared with 301 control subjects of the same ethnic origin. A significantly increased frequency of the HLA class I alleles A*0201 (p < 0.05), B*1402 (p < 0.001), and Cw*0802 (p < 0.005), and of the HLA class II DRB1*1501 (p < 0.01) with the Linked DQB1*0602 (p <= 0.05) and DRB1*01 (p <= 0.05) with the linked DQB1*0501 (p <= 0.01) alleles, has been observed. Notably, a fourfold increase of the haplotype B*1402, Cw*0802 (p < 0.0005) and a 15-fold increase of the Mediterranean haplotype A*33, B*1402, Cw*0802, DRB1*0102, DQB1*0501 (p < 0.005) was also revealed. This association may provide new insights into the autoimmune pathogenesis of PNH. (c) 2008 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

Paroxysmal Nocturnal Hemoglobinuria: significant association with specific HLA-A, B, C and DR alleles in Italian patients / Lombardi, Ml; Terrazzano, G; Cosentini, Elena; Gargiulo, L; Risitano, ANTONIO MARIA; Camerlengo, R; Sica, M; Aufiero, D; Poggi, A; Pirozzi, G; Rotoli, Bruno; Luzzatto, L; Notaro, R; Alfinito, Fiorella; Ruggiero, Giuseppina. - In: HUMAN IMMUNOLOGY. - ISSN 0198-8859. - STAMPA. - 69:(2008), pp. 202-206. [10.1016/j.humimm.2008.02.001]

Paroxysmal Nocturnal Hemoglobinuria: significant association with specific HLA-A, B, C and DR alleles in Italian patients

COSENTINI, ELENA;RISITANO, ANTONIO MARIA;ROTOLI, BRUNO;ALFINITO, FIORELLA;RUGGIERO, GIUSEPPINA
2008

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the expansion of a P/G-A mutated hematopoietic stem cell. An immune-mediated origin has been suggested for this disease. Because HLA genes represent a susceptibility factor for autoimmunity, we investigated HLA genotype in 42 Italian PNH patients compared with 301 control subjects of the same ethnic origin. A significantly increased frequency of the HLA class I alleles A*0201 (p < 0.05), B*1402 (p < 0.001), and Cw*0802 (p < 0.005), and of the HLA class II DRB1*1501 (p < 0.01) with the Linked DQB1*0602 (p <= 0.05) and DRB1*01 (p <= 0.05) with the linked DQB1*0501 (p <= 0.01) alleles, has been observed. Notably, a fourfold increase of the haplotype B*1402, Cw*0802 (p < 0.0005) and a 15-fold increase of the Mediterranean haplotype A*33, B*1402, Cw*0802, DRB1*0102, DQB1*0501 (p < 0.005) was also revealed. This association may provide new insights into the autoimmune pathogenesis of PNH. (c) 2008 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.
2008
Paroxysmal Nocturnal Hemoglobinuria: significant association with specific HLA-A, B, C and DR alleles in Italian patients / Lombardi, Ml; Terrazzano, G; Cosentini, Elena; Gargiulo, L; Risitano, ANTONIO MARIA; Camerlengo, R; Sica, M; Aufiero, D; Poggi, A; Pirozzi, G; Rotoli, Bruno; Luzzatto, L; Notaro, R; Alfinito, Fiorella; Ruggiero, Giuseppina. - In: HUMAN IMMUNOLOGY. - ISSN 0198-8859. - STAMPA. - 69:(2008), pp. 202-206. [10.1016/j.humimm.2008.02.001]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/160007
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