Timothy Ronan Leahy

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Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

I. Angulo, Oscar Vadas, +41 authors Sergey Nejentsev
Science
2013

Genetic mutations cause primary immunodeficiencies (PIDs) that predispose to infections. Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-of-function mutation… (More)

Idiopathic Suppurative Pylephlebitis: Interventional Radiological Diagnosis and Management

Conor O. Bogue, Timothy Ronan Leahy, +6 authors Bairbre L. Connolly
CardioVascular and Interventional Radiology
2009

We report the imaging findings and management of a case of suppurative pylephlebitis of unknown cause in a 10-year-old girl. Percutaneous aspiration of frank pus from the portal vein confirmed the… (More)

Human IFNAR2 deficiency: Lessons for antiviral immunity.

Christopher J A Duncan, Siti Mariam Mohamad, +19 authors Sophie Hambleton
Science translational medicine
2015

Type I interferon (IFN-α/β) is a fundamental antiviral defense mechanism. Mouse models have been pivotal to understanding the role of IFN-α/β in immunity, although validation of these findings in… (More)

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Tanya I. Coulter, Anita Chandra, +55 authors Andrew James Cant
The Journal of allergy and clinical immunology
2017

BACKGROUND Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic… (More)

Varicella zoster virus associated acute aseptic meningitis without exanthem in an immunocompetent 14-year-old boy.

Timothy Ronan Leahy, David W. Webb, Hilary Hoey, Karina M. Butler
The Pediatric infectious disease journal
2008

Neurologic complications can occur with varicella-zoster virus (VZV) infection, usually after vesicular exanthem. We report the case of a previously healthy 14-year-old boy with aseptic meningitis as… (More)

Changes in airway inflammation during pulmonary exacerbations in patients with cystic fibrosis and primary ciliary dyskinesia.

Felix A Ratjen, Valerie J. Waters, +5 authors Hartmut Grasemann
The European respiratory journal
2016

Lung disease in patients with both primary ciliary dyskinesia (PCD) or cystic fibrosis (CF) is associated with impaired mucociliary clearance; however, clinical outcomes are typically worse in CF… (More)

Incomplete Kawasaki disease associated with complicated Streptococcus pyogenes pneumonia: A case report.

Timothy Ronan Leahy, Eyal Cohen, Upton D Allen
The Canadian journal of infectious diseases…
2012

A three-year-old boy presented with community-acquired pneumonia complicated by empyema. Streptococcus pyogenes (group A streptococcus) was identified on culture of the pleural fluid. The patient… (More)

Beyond the rhetoric: how can non-government organisations contribute to reducing health disparities for Aboriginal and Torres Strait Islander people?

Lisa Wood, Trevor R Shilton, Lyn Dimer, Julie Smith, Timothy Ronan Leahy
Australian journal of primary health
2011

The prevailing disparities in Aboriginal health in Australia are a sobering reminder of failed health reforms, compounded by inadequate attention to the social determinants shaping health and… (More)

Interleukin-15 is associated with disease severity in viral bronchiolitis.

Timothy Ronan Leahy, Ross McManus, +13 authors Thomas Ryan
The European respiratory journal
2016

Disease severity in viral bronchiolitis in infancy is difficult to predict and has been linked to host innate immunity. The study aimed to investigate the innate cytokine interleukin-15 (IL-15) as a… (More)

Immunodeficiency in a Child with 22q11.2 Microduplication Syndrome

Robyn Traynor, Karina M. Butler, Andrew James Cant, Timothy Ronan Leahy
Journal of Clinical Immunology
2016

Our patient’s diagnosis was made in infancy after screening for 22q11.2 deletion syndrome in the context of her congenital heart disease (hypoplastic left heart syndrome). Other clinical features… (More)

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