The lack of either IRF9, or STAT2, has surprisingly little effect on human natural killer cell development and function.

Analysis of genetically defined immunodeficient patients allows study of the effect of the absence of specific proteins on human immune function in real-world conditions. Here we have addressed the importance of type I interferon signalling for human NK cell development by studying the phenotype and function of circulating NK cells isolated from patients suffering primary immunodeficiency disease due to mutation of either the human interferon regulatory factor 9 (IRF9) or the signal transducer and activator of transcription 2 (STAT2) genes. IRF9, together with phosphorylated STAT1 and STAT2, form a heterotrimer called interferon stimulated gene factor 3 (ISGF3) which promotes the expression of hundreds of IFN-stimulated genes that mediate antiviral function triggered by exposure to type I interferons.

Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.

Background: Genetic diagnosis of inborn errors of immunity (IEI) is complex due to the large number of genes involved and their molecular features. Missense variants have been reported as the most common cause of IEI. However, the frequency of copy number variants (CNVs) may be underestimated since their detection requires specific quantitative techniques.

Trends in cord blood banking.

Background: Umbilical cord blood (UCB) is a source of hematopoietic precursor cells for transplantation. The creation of UCB banks in 1992 led to the possibility of storing units of UCB for unrelated transplants. The distribution of cell contents in historical inventories is not homogenous and many units are not, therefore, suitable for adults.

Local IgE production and positive nasal provocation test in patients with persistent nonallergic rhinitis.

Background: Allergic rhinitis is an IgE-mediated inflammatory disease of the nasal mucosa, which is usually diagnosed by typical symptoms, positive skin tests, and/or serum specific IgE antibodies to allergens. Despite suggestive symptoms of allergic rhinitis, some patients have a negative diagnostic test for atopy.

Objective: To evaluate in the nose the inflammatory response, specific IgE to Dermatophagoides pteronyssinus (DP), and the response to a nasal allergen provocation test with DP (NAPT-DP), in patients with persistent nonallergic rhinitis (PNAR) compared with patients with persistent allergic rhinitis (PAR) and healthy controls.

Monitoring the acute phase response in non-immediate allergic drug reactions.

Purpose Of Review: The aim of this article is to evaluate the advantages of monitoring the immunological response of non-immediate allergic drug reactions in parallel with the affected tissues, skin and peripheral blood, in order to improve our understanding of the immunological response.

Recent Findings: Several studies have shown that in the skin and peripheral blood, the agents that take part in the development of the immunological reaction express a number of markers that parallel the evolution of the disease process. These markers include cytokines, chemokines, and cytotoxic factors, as well as many other markers involved in such mechanisms as drug metabolism and signal transduction.