Rare Diseases Symptoms Automatic Extraction

HLA class I gene polymorphism in Iranian patients with Papillon-Lefevre Syndrome.

[papillon-lefèvre syndrome]

Papillon-Lefevre Syndrome (PLS) is a rare autosomal recessive disorder characterized by diffused palmoplantar keratoderma and severe periodontitis. Increased susceptibility to infections due to impairment of the immune system is considered to be involved in pathoetiology of this disease.According to the crucial function of HLA molecules in immune responses and association between certain HLA class I alleles and some periodontal or skin diseases, this study was designed to evaluate the relation of HLA class I genes and PLS.HLA class I genes were typed by PCR-SSP (Polymerase Chain Reaction with Sequence Specific Primers) method in eight Iranian PLS patients and 89 healthy controls.The results showed no significant difference between the patients and controls. Moreover, identical haplotypes or genotypes were also observed among PLS patients and their healthy siblings.It seems that further genes are involved in genetic susceptibility to PLS. However the results of this study showed no significant association between HLA class I genes and PLS, molecular analyses of killer immunoglobulin-like receptors (KIRs) and MHC class I chain-related gene A and B (MICA/B) in PLS may clear many obscure points about the genetic factors involved in these diseases.

Diseases presenting "skin diseases" symptom

  • cutaneous mastocytosis
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • fabry disease
  • harlequin ichthyosis
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kindler syndrome
  • lamellar ichthyosis
  • oculocutaneous albinism
  • papillon-lefèvre syndrome
  • sneddon syndrome
  • systemic capillary leak syndrome

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