BACKGROUND Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia. Many patients with DOCK8 deficiency were previously thought to have a variant of Job's syndrome. Distinguishing between...

Autosomal deletion syndromes are of great interest since measurable loss of genetic material could lead to the mapping of the human autosomes. Short arm deletions and long arm deletions of chromosome 18 have been described in association with phenotypic changes (Grouchy et al., 1963, 1964) and reviewed recently by Wolf et al. (1967) and Reinwein, Ritter, and Wolf (1967). Since a ring chromosome...

This study was designed to evaluate vitamin D3 and metabolic hormones in hypothyroidism with syndrome without syndrome. Sixty patients were divided into three groups, 30 syndrome, healthy controls compared the patients. There a significant increase tetraiodothyronine, free thyronine very thyroid stimulating hormone women A systolic blood pressure, body mass index, fasting glucose, glycosylated ...

BACKGROUND AND OBJECTIVE Vitamin D deficiency and metabolic syndrome are 2 very common health problems in the Spanish population. It has been suggested that patients with metabolic syndrome may be vitamin D deficient more often than subjects without it and that low vitamin D levels may predispose to metabolic syndrome development. However, the results of prospective and intervention studies hav...

The first Australian case of acquired immune deficiency syndrome (AIDS), which occurred in a 27-year-old homosexual man, is reported. The patient, an American citizen now resident in Sydney, presented with life-threatening pulmonary consolidation. AIDS is characterized by severe defects in cell-mediated immunity associated with infections and neoplasms (most commonly Pneumocystis carinii pneumo...