Update on chronic granulomatous disease of childhood: immunotherapy and potential for gene therapy

Article Abstract:

A case history of a 19-year-old black man with a genetic form of chronic granulomatous disease (CGD) is described. The patient had a prolonged fever and had been treated for tuberculosis when he was five. A resistant lung infection developed at age eight, which was associated with neutrophil (white blood cell) abnormalities, and Aspergillus fungal infection was diagnosed. Recurrent respiratory problems continued, along with the development of two liver abscesses of unknown origin. After hospital admission and evaluation, the patient was diagnosed with a recurrence of the fungal infection. He received antibiotic treatment and transfusions of granulocytes (a class of white blood cells). This treatment was supplemented by injections of recombinant human interferon gamma every other day. After about six weeks, his condition returned to normal. Laboratory analysis of the patients' cells indicated that interferon gamma therapy might be useful in treating individuals with defective phagocyte (white blood cell) function. Therapeutic use of interferon gamma has been documented in other cases. In addition, the positive therapeutic effects of interferon gamma often persist after treatment is discontinued. Two general areas have been suggested as possibilities for immunotherapy: the replacement of missing or defective proteins involved in phagocyte production; and immunotherapy in conjunction with gene therapy. This latter technique utilizes genetically altered stem cells, which are placed in the bone marrow to produce normal protein. (Consumer Summary produced by Reliance Medical Information, Inc.)

Care and treatment, Chronic diseases, Pediatric diseases, Gene therapy, Immunologic deficiency syndromes, Immunotherapy, Immunological deficiency syndromes in children, Chronic diseases in children

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Itraconazole to prevent fungal infections in chronic granulomatous disease

Article Abstract:

The anti-fungal drug itraconazole may prevent fungal infections in people who have chronic granulomatous disease, according to a study of 39 patients. These patients have an immune abnormality that increases their risk of bacterial and fungal infections. One of the patients who took itraconazole developed a fungal infection, but this patient had not complied completely with the treatment.

Evaluation, Prevention, Itraconazole, Mycoses

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STAT3 mutations in the hyper-IgE syndrome

Article Abstract:

The signal transducer and activator of transcription 3 gene (STAT3) mutations in the hyper-IgE syndrome, a rare immunity disorder are analyzed. The unstimulated neurophils of the patients suffering from the disorder are found to contain increased levels of proinflammatory gene transcripts.

United Kingdom, Science & research, Physiological aspects, DNA binding proteins, Immunologic diseases, Clinical report, Phagocyte bactericidal dysfunction

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