Sustained Correction of X-Linked Severe Combined Immunodeficiency by ex Vivo Gene Therapy

Gene therapy was used in five boys with X-linked severe combined immunodeficiency disease. In this disorder, a mutation disables the common (c) chain, a component of five cytokine receptors that are essential for the development of T cells and natural killer cells. The disease is fatal within the first year of life unless treated with bone marrow transplantation. The immune system was restored in four patients, who remain well and have required no further treatment during follow-up of up to two years.

This report describes a unique example of the successful treatment of a fatal congenital disease by the introduction of the missing normal c gene into autologous hematopoietic stem cells ex vivo with a retroviral vector. This form of gene therapy has potential applications in other congenital disorders involving the hematopoietic system.

Related Editorial

Intravascular Radiation for In-Stent Restenosis in Bypass Grafts

Obstructive lesions in saphenous-vein bypass grafts are a common long-term complication of coronary bypass surgery. Stenting is often performed, but its benefit is limited by restenosis. This placebo-controlled trial evaluated treatment with intravascular gamma radiation for the prevention of in-stent restenosis in coronary bypass grafts. Radiation therapy reduced the rate of restenosis and the rate of subsequent revascularization over a 12-month period.

Although the results are promising, longer-term follow-up will be essential to ensure that the benefits are durable and that late complications, such as vascular damage or neoplasia, do not arise.

Related Perspective

Erythromycin-Resistant Group A Streptococci

In a longitudinal study at an elementary school in Pittsburgh, group A streptococci with resistance to erythromycin were unexpectedly identified in surveillance throat cultures in January 2001. Through May 2001, nearly half the isolates were resistant to erythromycin, and 22 of 46 children with resistant isolates had multiple cultures that were positive for this resistant streptococcus.

This apparently clonal outbreak of infection with erythromycin-resistant group A streptococci signals a clinically significant change in the pattern of susceptibility of this organism in the United States. The change may be the result of the increasing use of macrolide antibiotics.

Related Editorial

Brief Report: Development of Kaposi's Sarcoma in a Surgical Wound

A patient infected with the human immunodeficiency virus (HIV) who had xerostomia and enlargement of the parotid glands underwent a diagnostic biopsy of a labial salivary gland. Within six days, a rapidly growing, fungating mass had appeared at the biopsy site. The lesion had the histologic features of Kaposi's sarcoma and contained antigens of human herpesvirus 8. After treatment with local radiotherapy, the lesion resolved.

Kaposi's sarcoma in a surgical wound is unusual. The author speculates that proinflammatory cytokines and angiogenic factors may have had a role in triggering the development of the lesion in this HIV-infected patient.

Current Concepts: Schistosomiasis

Schistosomiasis is a parasitic-worm infection that affects about 200 million people in 74 countries. Despite major advances in treatment and control, this tropical disease continues to spread to new geographic areas. This review summarizes the manifestations of this disease, its diagnosis, medical treatment, and prophylaxis, and the prospects for a vaccine.

Medical Progress: Nonalcoholic Fatty Liver Disease

Alcohol abuse is the most common cause of fatty liver disease, but it is now apparent that fat deposition in the liver, and its consequences, may occur without alcohol abuse. The principal risk factors are obesity, non-insulin-dependent diabetes mellitus, and hyperlipidemia. The disorder has a wide clinical spectrum, ranging from asymptomatic steatosis to steatohepatitis, fibrosis, and cirrhosis. This article provides a broad overview of this increasingly recognized liver disease.

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