Jornal de Síndromes Genéticas e Terapia Gênica
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Hla Typing in Epidermolysis Bullosa Patients: Relevancy to Gluten Sensitivity

Annicchiarico G, Morgese MG, Fiore T, Mauro S, Garofalo L, Aceto G, Tampoia M, Bonamonte D, Minellic and Brunetti L

Background: Epidermolysis bullosa (EB) is an inherited genetic disease affecting skin adhesion at dermal or epidermal level or in the basement membrane zone. EB is present in three major forms: simplex, junctional and dystrophic. This latter is very often associated to non-cutaneous manifestation such as gastrointestinal complication and renal damage. Aim of this study was to classify EB patients based on an assigned severity score and individuate precipitating factor, such as HLA predisposing to gluten sensitivity, responsible of the different course of the extracutaneous manifestation of the pathology. Methods: By using a cross sectional design, 36 EB patients were screened based on the Birmingham severity score and HLA typing was performed in order to discover possible associations. HLA typing test was performed by PCR and statistical method of analysis was the χ2 test. Controls (n=341) were healthy volunteer subjects. Results: From a total of 36 patients, 24 were diagnosed of the more sever form of EB, the dystrophic one. The assigned scores ranged from 11 to 90, while the 12 simplex patients received a score from 0-2. In regard to HLA typing, we found that in EB patients the 21.62% expressed a DQ2.2 HLA, while controls only 5.87% (P