Learn More
A 14-year-old boy with severe combined immunodeficiency presented three times to a medical facility over a period of 4 months with fever and headache that progressed to hydrocephalus and status epilepticus necessitating a medically induced coma. Diagnostic workup including brain biopsy was unrevealing. Unbiased next-generation sequencing of the(More)
Thirteen cases of leukemia, 12 of them acute, occurred in 3 generations of a family comprising 293 members. Individual cases could not be linked to the possession of any of a range of genetic markers. Cytogenetic studies showed no constitutional chromosome abnormalities. Preliminary results of virologic studies suggested the presence of oncornaviruses in at(More)
We searched for possible immunogenetic markers in steroid-responsive nephrotic syndrome of childhood (SRNS). The incidence of HLA-DRw7 was significantly greater in SRNS patients than in controls (71% in patients, 29.8% in controls, P < 0.005). The HLA-A and -B locus antigens occurred in normal frequencies. The relative risk factor for HLA-DRw7 in SRNS was(More)
In five families with idiopathic (hereditary) hemochromatosis, clinical and biochemical expression of the disease occurred in offspring of probands, suggesting an autosomal dominant mode of inheritance. However, HLA typing of subjects indicated that a homozygous-heterozygous mating almost certainly had occurred in four of the five families, resulting in(More)
Studies of 78 unrelated patients and 19 families with idiopathic haemochromatosis are reported. The unrelated patients showed a highly significant association between the disease and HLA-A3. There was a less strong association with HLA-B7 and HLA-DRw2 attributed to the linkage disequilibrium between HLA-A3, B7, and DRw2. Lod scores and haplotype analysis of(More)
All available Australian families with more than one member suffering multiple sclerosis (MS) were HLA typed. As with all other individual published studies, convincing evidence for linkage between the HLA system and disease was not obtained. An analysis of 100 published affected sib-pairs and 17 cousin-pairs, however, established the existence of an(More)