Coronin-1A: Immune Deficiency in Humans and Mice

Punwani, Divya; Pelz, Barry J.; Yu, Jason; Arva, Nicoleta C.; Schafernak, Kristian T.; Kondratowicz, Karly; Makhija, Melanie; Puck, Jennifer M.

doi:10.1007/s10875-015-0130-z

Cited by 60 publications

(51 citation statements)

References 50 publications

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“…Like other immunodeficiencies caused by actin cytoskeletal defects, Coronin 1A deficiency impacts on a wide range of lymphocyte processes, including development, survival, TCR signalling, immune synapse formation and migration (Foger et al, 2006;Mugnier et al, 2008;Punwani et al, 2015). A total of nine patients have been described with Coronin 1A deficiency (Shiow et al, 2008;Moshous et al, 2013;Stray-Pedersen et al, 2014;Punwani et al, 2015;Yee et al, 2016), the majority with a typical SCID clinical presentation. A total of nine patients have been described with Coronin 1A deficiency (Shiow et al, 2008;Moshous et al, 2013;Stray-Pedersen et al, 2014;Punwani et al, 2015;Yee et al, 2016), the majority with a typical SCID clinical presentation.…”

Section: Coronin 1a Deficiencymentioning

confidence: 99%

Severe Epstein–Barr virus infection in primary immunodeficiency and the normal host

Worth

Houldcroft²,

Booth

2016

Br J Haematol

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Epstein-Barr virus (EBV) infection is ubiquitous in humans, but the majority of infections have an asymptomatic or self-limiting clinical course. Rarely, individuals may develop a pathological EBV infection with a variety of life threatening complications (including haemophagocytosis and malignancy) and others develop asymptomatic chronic EBV viraemia. Although an impaired ability to control EBV infection has long been recognised as a hallmark of severe T-cell immunodeficiency, the advent of next generation sequencing has identified a series of Primary Immunodeficiencies in which EBV-related pathology is the dominant feature. Chronic active EBV infection is defined as chronic EBV viraemia associated with systemic lymphoproliferative disease, in the absence of immunodeficiency. Descriptions of larger cohorts of patients with chronic active EBV in recent years have significantly advanced our understanding of this clinical syndrome. In this review we summarise the current understanding of the pathophysiology and natural history of these diseases and clinical syndromes, and discuss approaches to the investigation and treatment of severe or atypical EBV infection.

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Section: Coronin 1a Deficiencymentioning

confidence: 99%

Severe Epstein–Barr virus infection in primary immunodeficiency and the normal host

Worth

Houldcroft²,

Booth

2016

Br J Haematol

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“…Also, in one case, coronin 1 deficiency was found to be associated with reduced NK cell numbers and cytolytic function that were reported to be linked to defective actin deconstruction [45]. Whether or not the reported variations in B cell and natural killer (NK) cell numbers and/or functions are related to the associated genetic aberrations in these patients [39,44,45] rather than coronin 1 deficiency per se, remains to be analyzed. Importantly, the single patient analyzed to date with an exclusive coronin 1 deletion in the absence of other genetic aberrations [6,38], shows a normal phenotype with respect to B/NK cell numbers and functionality, although it cannot be excluded that the minimal residual coronin 1 expression may restore some coronin 1 function in this patient.…”

Section: Human Coronin 1-deficiency and Modulation Of Immune Cell Popmentioning

confidence: 98%

“…Furthermore, the age of onset of symptoms also broadly varied; for instance, whereas several studies report late infancy (7-15 months of age) as the age of onset of clinical manifestation [37,38,44] another study reports that first clinical manifestations are displayed around the age of 7 [39].…”

Section: Human Coronin 1-deficiency and Modulation Of Immune Cell Popmentioning

confidence: 99%

“…The neurocognitive and behavioral defects seen upon coronin 1 deficiency in humans [6,37,44] are reminiscent of the behavioral alterations observed in coronin 1-deficient mice, including aggression, poor memory formation and defective social interaction where they were shown to be due to defects in the cAMP/protein kinase A signaling pathway [6].…”

Section: Human Coronin 1-deficiency and Modulation Of Immune Cell Popmentioning

confidence: 99%

“…At the level of immune cell composition, however, all the patients irrespective of associated genetic aberrations, showed profound naïve T cell lymphopenia, characterized by drastically reduced CD3 + CD4 + CD45RA + and CD3 + CD8 + CD45RA + cells with relatively minor alterations of B cell and NK cell numbers or their function [6,38,39,44,45]. Also, in one case, coronin 1 deficiency was found to be associated with reduced NK cell numbers and cytolytic function that were reported to be linked to defective actin deconstruction [45].…”

Section: Human Coronin 1-deficiency and Modulation Of Immune Cell Popmentioning

confidence: 99%

See 2 more Smart Citations

Regulation of immune cell homeostasis and function by coronin 1

Jayachandran

Pieters

2015

International Immunopharmacology

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Homodimerization of coronin A through the C‐terminal coiled‐coil domain is essential for multicellular differentiation of Dictyostelium discoideum

et al. 2020

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Coronin proteins are widely expressed among eukaryotic organisms. Most coronins consist of a WD‐repeat domain followed by a C‐terminal coiled coil. Dictyostelium discoideum expresses a single short coronin coronin A, which has been implicated in both actin modulation and multicellular differentiation. Whether coronin A's coiled coil is important for functionality, as well as the oligomeric state of coronin A is not known. Here, we show that the coiled‐coil domain in Dictyostelium coronin A functions in homodimerization, is dispensable for coronin A stability and localization but essential for multicellular differentiation. These results allow a better understanding of the role for the coiled‐coil domain of coronin A in oligomerization and demonstrate that its presence is essential for multicellular differentiation.

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Coronin-1A: Immune Deficiency in Humans and Mice

Cited by 60 publications

References 50 publications

Severe Epstein–Barr virus infection in primary immunodeficiency and the normal host

Severe Epstein–Barr virus infection in primary immunodeficiency and the normal host

Regulation of immune cell homeostasis and function by coronin 1

Homodimerization of coronin A through the C‐terminal coiled‐coil domain is essential for multicellular differentiation of Dictyostelium discoideum

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