title: Insights into primary immune deficiency from quantitative microscopy.
abstract: Recent advances in genomics-based technology have resulted in an increase in our understanding of the molecular basis of many primary immune deficiencies. Along with this increased knowledge comes an increased responsibility to understand the underlying mechanism of disease, and thus increasingly sophisticated technologies are being used to investigate the cell biology of human immune deficiencies. One such technology, which has itself undergone a recent explosion in innovation, is that of high-resolution microscopy and image analysis. These advances complement innovative studies that have previously shed light on critical cell biological processes that are perturbed by single-gene mutations in primary immune deficiency. Here we highlight advances made specifically in the following cell biological processes: (1) cytoskeletal-related processes; (2) cell signaling; (3) intercellular trafficking; and (4) cellular host defense.
authors.affiliation: Center for Human Immunobiology, Texas Children's Hospital and Baylor College of Medicine, Houston, Tex.
authors.forename: Emily M
authors.initials: EM
authors.lastname: Mace
authors.affiliation: Center for Human Immunobiology, Texas Children's Hospital and Baylor College of Medicine, Houston, Tex. Electronic address: orange@bcm.edu.
authors.forename: Jordan S
authors.initials: JS
authors.lastname: Orange
mesh_terms: D000818:Animals; D003599:Cytoskeleton / Q000276:immunology*; D006801:Humans; D007109:Immunity; D007153:Immunologic Deficiency Syndromes / Q000473:pathology*; D008853:Microscopy / Q000379:methods*; D021381:Protein Transport; D015398:Signal Transduction
keywords: Primary immune deficiency; cell biology; cytoskeleton; host defense; microscopy