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 a newly recognized susceptibility to atypical mycobacterial infections, some of which are associated with defective receptors for gamma interferon, but others without known gene defects although some are apparently X-linked. In one family monocytes of affected individuals fail to produce IL-12, an important inducer of interferon which in turn activates macrophages to kill ingested mycobacteria. A carrier test for females was designed and linkage conducted. A second disease under study is the Hyper IgE syndrome, also known as Job's 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 that features of the syndrome other than the susceptibiity to infection exist, and that the mode of inheritance is autodomal dominant with variable expressivity and penetrance. Cytogenetic studies have shown one affected patient to bear a marker ring chromosome, which may be a clue to the cause of this disease.
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| Grimbacher, Bodo; Holland, Steven M; Puck, Jennifer M (2005) Hyper-IgE syndromes. Immunol Rev 203:244-50 |
| Rao, V Koneti; Dugan, Faith; Dale, Janet K et al. (2005) Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. Br J Haematol 129:534-8 |
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| Puck, Jennifer M; Straus, Stephen E (2004) Somatic mutations--not just for cancer anymore. N Engl J Med 351:1388-90 |
| Matsuzaki, Hajime; Loi, Halina; Dong, Shoulian et al. (2004) Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res 14:414-25 |
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