D
David Edgar
Publications - 2
Citations - 493
David Edgar is an academic researcher. The author has contributed to research in topics: Interferon gamma & Frameshift mutation. The author has an hindex of 2, co-authored 2 publications receiving 482 citations.
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Journal ArticleDOI
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
Emmanuelle Jouanguy,Salma Lamhamedi-Cherradi,David A. Lammas,Susan E. Dorman,Marie Claude Fondaneche,Stéphanie Dupuis,Rainer Döffinger,Frédéric Altare,John Girdlestone,Jean-François Emile,Henri Ducoulombier,David Edgar,Jane R. Clarke,Vivi-Anne Oxelius,Melchiorre Brai,Vas Novelli,Klaus Heyne,Alain Fischer,Steven M. Holland,Dinakantha S. Kumararatne,Robert D. Schreiber,Jean-Laurent Casanova +21 more
TL;DR: A hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria is reported.
Journal ArticleDOI
Diagnosis of defects in the type 1 cytokine pathway
David A. Lammas,Pamela Drysdale,Anne Ben-Smith,John Girdlestone,David Edgar,Dinakantha S. Kumararatne +5 more
TL;DR: This review summarises the extended clinical spectrum seen in patients with inherited defects in the interleukin-12 (IL-12)-dependent, 'high-output' interferon-Gamma (IFN-gamma) pathway and indicates a strategy for the identification of putative defect in the type 1 cytokine pathway.