IKBKG (NEMO) 5' Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.

Four patients with adult-onset, disseminated mycobacterial infection had 5' UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency. These mutations caused decreased levels of NEMO protein and Toll-like receptor driven cytokine production. Three patients died from disseminated disease.

A critical role for IL-18 in transformation and maturation of naive eosinophils to pathogenic eosinophils.

The current studies demonstrate a critical role of IL-18 in transforming IL-5 generated naïve eosinophils into the distinct inflammatory CD101CD274 expressing mature and activated tissue eosinophils that promote disease pathogenesis.

Hypersensitivity pneumonitis in children: clinical features, diagnosis, and treatment.

Hypersensitivity pneumonitis (HP), or extrinsic allergic alveolitis, is a form of immune-mediated inflammatory lung disease involving the distal portions of the lungs associated with intense or repeated exposure to a variety of finely dispersed environmental antigens. Although once believed to be a disease of adults because of its frequent association with the occupational setting, HP exists in the pediatric population and often goes unrecognized. Childhood HP is often associated with exposure to antigens in the home environment as well as with certain hobbies.

Fish and shellfish allergy.

Fish and shellfish are important in the American diet and economy. Nearly $27 billion are spent each year in the United States on seafood products. Fish and shellfish are also important causes of food hypersensitivity.

Occupational asthma caused by high-molecular-weight substances.

More than 250 agents that are encountered in the workplace have been shown to induce asthma in susceptible individuals. It is estimated that 2% to 15% of cases of asthma may be occupational. High-molecular-weight substances, such as plant and animal proteins, enzymes, and large carbohydrate molecules, can induce IgE-mediated occupational asthma.

Hereditary angioedema: a rare but potentially lethal disease.

Hereditary angioedema, although uncommon, should be considered in the differential diagnosis of all patients with facial edema. In this article, we present a case of hereditary angioedema and discuss the presentation, diagnosis, and management of the disease.