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Showing posts from August, 2014

Risks for infection in patients with asthma (or other atopic conditions): is asthma more than a chronic airway disease?

There is evidence that the presence of asthma can influence patients’ susceptibility to infections, yet research in this aspect of asthma has been limited. Additionally, there is a debate in the field with current literature tending to suggest an increased risk of infection among atopic patien t s as due to opportunistic infections secondary to airway inflammation, especially in severe atopic diseases. Other evidence suggests that such risk and its underlying immune dysfunction may be a phenotypic or clinical feature of atopic conditions. In his review, Young J. Juhn argues that improved understanding of the effects of atopic conditions on the risk of microbial infections will bring important new perspectives to clinical practice, research, and public health concerning atopic conditions [ J Allergy Clin Immunol 2014; 134(2): 247-57 ] . The review focuses on the effect of atopic conditions on the risk of infections, termed reverse causality. For example, asthma is associated with a b...

Gene hunting in the genomic era: approaches to diagnostic dilemmas in primary immunodeficiencies

Over the past four decades, over 180 molecular defects causing primary immunodeficiencies (PIDs) have been discovered through advances in immunology and genetics. Recent studies have identified ways to solve difficult cases such as diseases with autosomal dominant inheritance, incomplete penetrance, or mutations in non-coding regions. In their review, Platt et al focus on selected causes to illustrate a spectrum of approaches for identifying causative mutations [ J Allergy Clin Immunol 2014; 134(2): 262-68 ].   They broadly classified these approaches into 3 different strategies: 1) educated guesses based on known signaling pathways essential for immune cell development and function, 2) similarity of clinical phenotypes to mouse models, and 3) unbiased genetic approaches. They also address methods of overcoming challenges in identifying molecular causes of PIDS. Since the majority of PIDs are monogenic, whole exome/genome sequencing has expedited the discovery of pathogenic mutat...