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With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of these "mendelizing" disease traits represent phenotypes caused by single-gene defects, a percentage of patients(More)
BACKGROUND Gain of function mutations in signal transducer and activator of transcription 1 (GOF-STAT1) cause a susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be mild or severe and life threatening. Hematopoietic stem cell transplantation (HSCT) has been utilized in some(More)
permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver Background: Allergic rhinitis is a major risk factor for asthma(More)
permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver Background: Multiple animal antigens, spores and pollens were collected(More)
Background Asthma is the most common chronic respiratory disease in childhood. However, it is quite difficult to make a prompt diagnosis of asthma in a child 5 years and younger, partly due to a lack of objective diagnostic means. Our previous studies on susceptibility gene of asthma showed that a gene-gene interaction among 4 single nucleotide(More)
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