the hyperimmunoglobulin e syndromes (hiess) are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. hies are characterized by the classic triad of high serum levels of immunoglobulin e (ige), recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. most cases of hies are s...

Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurrent episodes of fever and inflammation. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to very minor stimuli or turned off too late. The genetic background of the major familial perio...

Petechiae or echymoses and severe thrombocytopenia (< 20 × 10 platelets/litre) is a worrying and serious condition in newborn infants. Rapid correction of the platelet count is essential to prevent cerebral bleeding and associated life long disability, and this should be combined with laboratory investigations to confirm the clinical diagnosis. Prospective studies have revealed that the most li...

Three different killer specificities in U. maydis are inherited cytoplasmically and transmitted by cell fusion. Each killer generates low frequencies of specifically immune forms in crosses with sensitive strains. The properties of immunity to each killer are also inherited cytoplasmically and transmitted by cell fusion. Killer strains carry virus-like particles about 41 nm in diameter. Each ki...

Studying rare inherited immune disorders in patients has led to improved understanding of how the human immune system is fundamentally regulated. This knowledge is needed to develop new therapeutic agents for immunodeficiency, autoimmunity, cancer, and transplantation. One such illustrative disorder is DOCK8 deficiency, whose molecular etiology was discovered only in the past year. The discover...

BACKGROUND Chronic granulomatous disease is a rare inherited disorder of the innate immune system. In patients with a clinical history of recurrent or persistent infections, especially infections caused by uncommon species, chronic granulomatous disease should be considered. CASE PRESENTATION We report the case of a 5-year-old boy with a presumptive diagnosis of Crohn's disease with extrainte...

Petechiae or echymoses and severe thrombocytopenia (< 20 × 10 platelets/litre) is a worrying and serious condition in newborn infants. Rapid correction of the platelet count is essential to prevent cerebral bleeding and associated life long disability, and this should be combined with laboratory investigations to confirm the clinical diagnosis. Prospective studies have revealed that the most li...

we studied the immune system, especially the chemotactic activity of neutrophils, in ten patients with vitamin d-deficient rickets and compared the results with ten healthy controls of matched age. among all immune system factors, the chemotactic studies persistantly showed remarkable deficiency in leukocyte mobility, both random motion and migration. when compared with controls, the findings w...

Eutherian mammals have inherited a typical vertebrate immune system, which protects the body against infectious organisms by detecting and destroying foreign biological material. However, with the evolution of longer gestation periods, this protective mechanism became a potential threat to the 'semi-foreign' fetus and so eutherians have developed systems to prevent immune rejection of their dev...