Celiac disease and selective immunoglobulin A deficiency

Selective IgA deficiency was observed in 12 of 688 (1.7%) patients with celiac disease who were clinically undistinguishable from patients with celiac disease with normal IgA levels. This high prevalence of IgA deficiency in patients with celiac disease makes serum IgA assay advisable when screening for celiac disease is performed by measurement of antigliadin antibodies or anti-IgA endomysium antibodies. Similarly, subjects with IgA deficiency should be considered at risk of celiac disease.

Atypical presentation of anti-N-methyl-D-aspartate receptor encephalitis: two case reports

Abstract Background Anti-N-methyl-D-aspartate receptor encephalitis is a rare autoimmune disease characterized by severe neurological and psychiatric symptoms and a difficult diagnosis. The disease is often secondary to a neoplastic lesion, seldom diagnosed years later. Psychiatric symptoms are prevalent in adults; neurologic symptoms are more evident in children, who typically present primarily with neurological symptoms. To the best of our knowledge, the association with juvenile idiopathic arthritis has not been described. Case presentation We report the cases of two caucasian girls with an atypical presentation. The first patient was an 8-year-old girl with normal psychomotor developmen…

IgG1 antiendomysium and IgG antitissue transglutaminase (anti-tTG) antibodies in coeliac patients with selective IgA deficiency

Background—In selective IgA deficiency (IgAD), there is no reliable screening test for coeliac disease (CD). Aim—To evaluate the usefulness of IgG1 antiendomysium and IgG antitissue transglutaminase tests for CD diagnosis in IgAD. Methods—IgA and IgG antigliadin antibodies (IgA- and IgG-AGA), IgA and IgG1 antiendomysium antibodies (IgA- and IgG1-EMA), and IgA and IgG antitissue

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Genome search in celiac disease.

SummaryCeliac disease (CD), a malabsorption disorder of the small intestine, results from ingestion of gluten. The HLA risk factors involved in CD are well known but do not explain the entire genetic susceptibility. To determine the localization of other genetic risk factors, a systematic screening of the genome has been undertaken. The typing information of 281 markers on 110 affected sib pairs and their parents was used to test linkage. Systematic linkage analysis was first performed on 39 pairs in which both sibs had a symptomatic form of CD. Replication of the regions of interest was then carried out on 71 pairs in which one sib had a symptomatic form and the other a silent form of CD. …

Acute rheumatic fever prophylaxis in high-income countries: clinical observations from an Italian multicentre, retrospective study.

Objective-The aim of the study is to evaluate the compliance rate to secondary prophylaxis and the presence of Rheumatic Heart Disease (RHD) in a cohort of Italian patients with Acute Rheumatic Fever (ARF). Methods-This is a multicentre retrospective study. Patients were divided into two groups according to the presence or absence at last follow-up of RHD. Clinical features, ARF recurrences and the rate of compliance to secondary prophylaxis were evaluated. Results-wo hundred and ninety patients were enrolled (137 females, 153 males). Carditis at onset was present in 244 patients (84.7%). At the end of follow-up, 173 patients showed RHD. Adherence to secondary prophylaxis was low in 26% of …