GENETIC ANALYSIS OF HOST DEFENSE DISORDERS

Human Genome Research

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Abstract

There are several syndromes with abnormal susceptibility to infections which seem to have a genetic basis, but for which no linkage studies or gene candidate evaluations have been done. In collaboration with investigators at NIAID, we have undertaken to elucidate the genetic cause of selected disorders. One is Hyper IgE syndrome, also known as Jobs syndrome, in which affected individuals are susceptible to recurrent skin and lung infections and have extreme elevations of IgE. In evaluating sporadic patients and families with multiple affected members we have noted features other than the susceptibiity to infection including bone, connective tissue and tooth abnormalities. Inheritance in families is autodomal dominant with variable expressivity and penetrance. Cytogenetic studies have shown one affected patient to bear a marker ring chromosome derived from human chromosome 4q. Linkage analysis showed that some families have linkage of Hyper IgE syndrome to this region of the genome. A detailed map of the area has been constructed and genes are being evaluated for mutations that might cause the syndrome. - Genetics, Immunology, Allergy, Dental Disease, Human Genome Research, Infectious Diseases - Human Subjects & Human Subjects: Interview, Questionaires, or Surveys Only