The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.

Purpose Of Review: We aim to describe the pathophysiology, clinical findings, diagnosis, and treatment of deficiency of adenosine deaminase 2 (DADA2).

Recent Findings: DADA2 is a multi-organ disease of children and less often adults, which can present with wide-ranging manifestations including strokes, medium vessel vasculitis, hematologic disease, and immunodeficiency. Diagnosis is through detection of reduced activity level of the adenosine deaminase 2 (ADA2) enzyme and/or identification of bi-allelic mutations in the ADA2 gene.

Phagocytosis of mast cell granules results in decreased macrophage superoxide production.

The mechanism by which phagocytosed mast cell granules (MCGs) inhibit macrophage superoxide production has not been defined. In this study, rat peritoneal macrophages were co-incubated with either isolated intact MCGs or MCG-sonicate, and their respiratory burst capacity and morphology were studied. Co-incubation of macrophages with either intact MCGs or MCG-sonicate resulted in a dose-dependent inhibition of superoxide- mediated cytochrome c reduction.

Iron deficiency: the global perspective.

The prevelance of IDA in industrialized countries has declined in recent decades, but there has been little change in the worldwide prevalence. IDA is currently estimated to affect more than 500 million people. Recent studies have indicated that anemia per se, the most common manifestation of iron deficiency, is less important from a public health standpoint than liabilities associated with tissue iron deficiency.

Prediction of carcinoma in acquired cystic disease as a function of kidney weight.

Acquired renal cystic disease occurs in up to 80% of patients on chronic dialysis and is complicated by renal adenocarcinoma in about 6% of cases. This report suggests that acquired cystic kidneys weighing more than 150 g are six times more likely to contain carcinoma than are kidneys of smaller size. This relationship is true whether or not the large kidney contains a radiologically detectable tumor.