title: Recent advances in chronic granulomatous disease.
abstract: Chronic Granulomatous Disease (CGD) is a primary immunodeficiency caused by abnormities in the NADPH Oxidase that is involved in the respiratory burst responsible for initiating the killing of microbes ingested by phagocytic cells. The hallmark of CGD is recurrent infection but the inflammatory complications can prove difficult to treat. New insights into the mechanisms responsible for the inflammatory complications have led to new therapies. The treatment of CGD colitis with an anti-tumour necrosis alpha agent has been shown to be successful but associated with significant infectious complications. Haematopoietic stem cell transplants offer the possibility of cure for those with ether a matched or unrelated donor transplant, with results of the latter improving significantly over recent years. Gene Therapy offers the promise of cure without the need for a transplant but better vectors are required.
authors.affiliation: Institute of Child Health, University College London and The Great Ormond Street Hospital for Sick Children NHS Foundation Trust, 30 Guilford Street, London WC1N 1EH, UK. Electronic address: d.goldblatt@ucl.ac.uk.
authors.forename: David
authors.initials: D
authors.lastname: Goldblatt
mesh_terms: D015316:Genetic Therapy; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans
keywords: Gene therapy; Haematopoietic stem cell transplant; Immunocompromise; Primary immunodeficiency