Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis.

Mutations in IFIH1 gene encoding viral RNA sensor MDA5 have been reported responsible for many interferonopathies, including Aicardi-Goutières syndrome (AGS) and monogenic lupus, however, the pathological link between IFIH1 mutations and various autoimmune symptoms remains unclear. Here, we generated transgenic mice expressing human MDA5 R779H mutant (R779H Tg), reported in AGS and monogenic lupus patient. Mice spontaneously developed myocarditis and nephritis with upregulation of type I IFNs in the major organs.

Psoriasis-like skin disorder in transgenic mice expressing a RIG-I Singleton-Merten syndrome variant.

Mutations in DDX58 (DExD/H-box helicase 58), which encodes the cytoplasmic RNA sensor retinoic acid-inducible gene I (RIG-I), were recently identified in the rare autoimmune disease Singleton-Merten syndrome (SMS). We report the spontaneous development of psoriasis-like skin lesions as an SMS-like symptom in transgenic mice harboring one of the RIG-I SMS variants, E373A. Histological analysis revealed typical characteristics of psoriasis, including the abnormal proliferation and differentiation of keratinocytes leading to epidermal hyperplasia, and infiltrates consisting of neutrophils, dendritic cells and T cells.

Guinea worm: from Robert Leiper to eradication.

Guinea worm disease, dracunculiasis or dracontiasis, is an ancient disease with records going back over 4500 years, but until the beginning of the 20th century, little was known about its life cycle, particularly how humans became infected. In 1905, Robert Thomas Leiper was sent by the British colonial authorities to West Africa to investigate the spread of Guinea worm disease and to recommend measures to prevent it. While carrying out his investigations, he made important contributions to the aetiology, epidemiology and public health aspects of Guinea worm disease and provided definitive answers to many outstanding questions.

Why is dracunculiasis eradication taking so long?

The long time needed for global eradication of dracunculiasis (Guinea worm disease) was not anticipated at the outset. The successful eradication of smallpox in 10 years compares with the target date set in 1985 for dracunculiasis eradication - 1995. Seventeen years after that date, transmission continues.