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The Expanding Spectrum of Human coronin 1A deficiency

Current Allergy and Asthma Reports, ISSN: 1534-6315, Vol: 14, Issue: 12, Page: 1-8
2014
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Review Description

Since the first discovery of coronin in the amoeba Dictyostelium discoideum, remarkable insights have been gained regarding the structure and function of coronins, highly conserved from yeast to humans. It has been speculated that coronins have evolved from actin-binding molecules in lower eukaryotes to regulators of various cellular processes in mammals. Indeed, coronins are not only involved in cytokinesis, cell motility, and other actin-related processes but they are also implicated in immune homeostasis and calcium–calcineurin signaling. Most strikingly, coronin 1 deficiencies give rise to immune deficiencies in mice and humans that are characterized by severe T lymphocytopenia. Whereas complete absence of coronin 1A is associated with severe combined immunodeficiency in humans, hypomorphic mutations lead to a profound defect in naïve T cells, expansion of oligoclonal memory T cells, and exquisite susceptibility to EBV-associated B cell lymphoproliferation. Recent publications show that coronin 1A also plays a role in natural killer cell cytotoxic function and in neurobehavioral processes. It can be expected that future identification of coronin 1A-deficient patients will further extend the phenotypic spectrum thereby increasing our knowledge of this fascinating molecule.

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