Interferon-gamma receptor defects.
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Humans↗
Biomedical subjects
Robert W Hostoffer
Publications and source records attributed to Robert W Hostoffer.
Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections.
Rubinstein-Tabyi Syndrome (RTS) is characterized by broad toes, broad thumbs, facial dysmorphisms, and mental retardation. The syndrome has been shown in some patients to be associated with break points in and microdeletions of chromosome 16p13.3. It is estimated that approximately 75% of patients with RTS experience recurrent respiratory infections. In this study, three patients thought to have RTS and recurrent infections were evaluated for an immunologic deficiency. All three patients showed a polysaccharide antibody response deficit. We conclude that a primary immune deficiency may exist in the remainder of the RTS population and may explain the reason for the propensity for recurrent infections. Aggressive investigation and management in patients with RTS may further determine the mechanism of this deficiency and enhance the quality of life of these patients.
Adolescent↗
The response to intravenous immunoglobulin replacement therapy in patients with asthma with specific antibody deficiency.
In a retrospective analysis of our patient population, 20 difficult-to-treat patients with asthma were found to have clinical and laboratory evidence of specific antibody deficiency, and several had mild hypogammaglobulinemia. Intravenous immunoglobulin replacement therapy at 400-600 mg/kg every 3-4 weeks gave remarkable clinical benefits, with reduction in morbidity, number of hospitalizations, steroid therapy, and number of respiratory infections. We believe that, in this group of patients, the use of intravenous immunoglobulin perhaps allows the achievement of asthma prevention rather than an amelioration of inflammation.
Adult↗