X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder, caused by mutations of the gene encoding CD40 ligand (CD40L; CD154). We report the clinical manifestations and mutational analysis of the CD40L gene observed in a male patient from a XHIM family. Having hypogammaglobulinemia and elevated IgM, the 3-yr-old boy exhibited the characteristic clinical features of XHIM. T...

Growth hormone deficiency (GHD) may be associated with a number of immunodeficiency diseases, but its association with immunoglobulin class switch recombination (Ig CSR) deficiencies is very rare. We report the case of a patient with a history of recurrent diarrhea and respiratory infections diagnosed with hyper IgM syndrome on the basis of immunological findings (low serum levels of IgG and Ig...

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...

X-linked hyper-IgM Syndrome (XHIGM) is caused by a mutation of CD40 ligand (CD40L), which is normally expressed on activated CD4+ T cells and is responsible for immunoglobulin class switching. A 7-year-old boy with recurrent sino-pulmonary infections since the age of 3 months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and NK cells, but significantly elevated IgM and extrem...

New data is emerging from evolutionary anthropology and the neuroscience of social cognition on our species-specific hyper-cooperation (HC). This paper attempts an integration of third-person archaeological and second-person, neuroscientific perspectives on the structure of HC, through a post-Ricoeurian development in hermeneutical phenomenology. We argue for the relatively late evolution of ad...

MAN\NX generationlS of B3elfait medical studeiits xvili learn wvith; regret of the death of Irofessor James A. Lindsay, whichi occurred on Tuesday, 15thi Decemiber, 1931. 'Jinmmy1 In(lsay, as lie \was afIectionately knowni to h.is students, prolbal)l exercisedc a greater in1fluenice oni tle Belfast Medical Schiool than any otlherfigui-r of Ihis timne; while thle gen1tlenXess of his dispositioIn...

BACKGROUND Mould exposure has been linked to childhood asthma and bronchial hyper-responsiveness. Few studies have assessed beta-(1,3)-d-glucan (beta-glucan), a significant fungal cell wall constituent, in relation to asthma in adolescence. OBJECTIVE To determine whether house dust-derived beta-glucan exposure at age 7-10 is associated with the development and persistence of atopic and non-at...

All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c. 654C->A transversion of the CD40L gene that predicts premature termination of CD40L synthesis. This report points to the importance of early carrier detection and genetic counseling in families wit...