Discrimination Between Celiac and Other Gastrointestinal Disorders in Childhood by Rapid Human Lymphocyte Antigen Typing (Technical Briefs‪)‬

Celiac disease (CD) is a genetically complex, multifactorial immune-mediated disease (1). The intestinal damage that characterizes the disorder is induced by dietary gluten ingestion in susceptible individuals (1). A specific HLA DQA1*0501/DQB1*0201 heterodimer, or in a few cases, the HLA DRB1*04 alleles, is associated with the disease (2). In fact, when presented by these HLA molecules, gluten-derived peptides cause T-cell activation in the intestinal mucosa, which is followed by cytokine production and mucosal intestinal damage (1). The clinical manifestations of CD are very variable, and most of the symptoms are also present in other clinical conditions. Diagnosis of CD includes the presence of circulating gliadin and endomysium antibodies (EMAs) (3) and is traditionally confirmed by intestinal biopsy, according to European Society of Paediatric Gastroenterology and Nutrition (ESPGAN) criteria (4). The genetic diagnostic approach may be very useful in CD patients with IgA deficiency, a condition where the serological tools are less useful; in familial screening; or in cases of latent forms of CD. Regarding the genetic approach, despite numerous reports of HLA class II associations to CD in diverse countries (5-9), there has been no systematic study to establish the role of HLA typing in the diagnosis of CD, particularly in discriminating CD from other confounding diseases.