Common human leukocyte antigen alleles in pemphigus vulgaris and pemphigus foliaceus Italian patients

Maria Luisa Lombardi, Ornella Mercuro, Vincenzo Ruocco, Ada Lo Schiavo, Vincenza Lombari, Vincenzo Guerrera, Giuseppe Pirozzi, Ciro Manzo

Research output: Contribution to journalArticlepeer-review

Abstract

Pemphigus refers to a group of autoimmune blistering skin diseases, mainly identified as pemphigus vulgaris and pemphigus foliaceus, both characterized by the presence of autoantibodies against keratinocyte adhesion molecules, leading to loss of cell-cell adhesion with consequent blister formation. Pemphigus vulgaris is reported to be associated with human leukocyte antigen DR4 and/or DR6 whereas no data are available on pemphigus foliaceus, except for the endemic Brazilian form (fogo selvagem), which is reported to be associated with DR1 and DR4. We here report human leukocyte antigen molecular typing on a total of 87 patients, 61 with pemphigus vulgaris and 26 with pemphigus foliaceus, versus 128 healthy matched controls. Generic typing showed an increase of DRB1*04 and DRB1*14 and a decrease of DRB1*07 in both pemphigus vulgaris and pemphigus foliaceus patients. Molecular subtyping of DR4+ and DR14+ subjects showed a highly significant association between the DRB1*1401 and both pemphigus vulgaris (p <0.0001) and pemphigus foliaceus patients (p <0.0001) together with a significant increase of the linked DQB1*0503 (pemphigus vulgaris p <0.0001; pemphigus foliaceus p <0.0001). Moreover, whereas the association between DRB1*0402 and pemphigus vulgaris (p <0.0001) has been confirmed, no significant association between a specific allele of the DR4 group and pemphigus foliaceus, has been found. Therefore, at least in Italian patients, pemphigus vulgaris and pemphigus foliaceus share DRB1*1401 and DQB1*0503, as susceptible human leukocyte antigen alleles, whereas DRB1*0402 is only found associated with pemphigus vulgaris. The observation that both diseases, pemphigus vulgaris and pemphigus foliaceus, carry the same susceptible human leukocyte antigen alleles has been interpreted as a common genetic background predisposing to pemphigus as, like in other autoimmune disorders, it is not sufficient to explain the onset of the disease on the basis of the sole aforementioned alleles. Other linked genes and/or environmental factors should play a facilitating role in the outbreak of pemphigus, either pemphigus vulgaris or pemphigus foliaceus.

Original languageEnglish
Pages (from-to)107-110
Number of pages4
JournalJournal of Investigative Dermatology
Volume113
Issue number1
DOIs
Publication statusPublished - 1999

Keywords

  • Human leukocyte antigen
  • Pemphigus
  • Polymerase chain reaction-sequence specific primers typing

ASJC Scopus subject areas

  • Dermatology

Fingerprint

Dive into the research topics of 'Common human leukocyte antigen alleles in pemphigus vulgaris and pemphigus foliaceus Italian patients'. Together they form a unique fingerprint.

Cite this