Background: Celiac disease is a common autoimmune disorder that is diagnosed based on clinical case identification, serological screening, and duodenal histology. However, the existence of mild clinical forms, such as seronegative cases with patchy atrophy and potential celiac disease, can make it difficult to determine a definitive diagnosis. The seronegative patients with celiac disease can i...

Primary selective immunoglobulin (Ig) M deficiency usually presents early in life with recurrent or severe infections caused by encapsulated and gram-negative organisms. Primary selective IgM deficiency in adults is rare and is usually associated with autoimmune diseases or malignant neoplasm. We performed an extensive immunological analysis of innate and adaptive immunity in an adult patient w...

Anaphylactic transfusion reactions are acute, potentially life-threatening events with generalized signs and symptoms. Usually IgE mediated they may also result from antigen -antibody reaction involving non-IgE antibodies which fix complement and generate anaphylatoxins. The best documented reactions of the latter type result from presence of anti IgA antibodies in IgA deficient patients who re...

A case is described of selective immunoglobulin A deficiency in association with an 18q+ anomaly, apparently the result of a break at 18q23 and a de novo translocation. The presentation is compared with the phenotypic and immunological features in an IgA deficient 18q-- patient. The findings in these two patients suggest that gene(s) concerned with regulation of IgA synthesis are located on the...

Understanding how class switch recombination (CSR) is regulated to produce immunoglobulin E (IgE) has become fundamental because of the dramatic increase in the prevalence of IgE-mediated hypersensitivity reactions. CSR requires the induction of the enzyme AICDA in B cells. Mutations in AICDA have been linked to Hyper-IgM syndrome (HIGM2), which shows absence of switching to IgE as well as to I...

BACKGROUND IgA deficiency causes false-negative IgA-based celiac serology results in patients with celiac disease. Using a case-finding strategy, we examined the prevalence of IgA deficiency, physician evaluation, and management of IgA deficiency during serological testing for celiac disease. METHODS We reviewed consecutive IgA-endomysial antibody (EMA) and serum IgA results from the laborato...