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The phenotype observed contrasts to that of patients with loss-of-function (LoF) STAT3 mutations causing hyper IgE syndrome (Job syndrome), typically characterized by increased immunoglobulin E (IgE), recurrent infections, and eczema (4).
Whole genome sequencing reveals a chromosome 9p deletion causing DOCK8 deficiency in an adult diagnosed with hyper IgE syndrome who developed progressive multifocal leukoencephalopathy J Clim Immunol, 2014 in press.
However, none of the findings were compatible with either of the well-known immunodeficiency syndromes including Hyper IgE syndrome.
In hyper IgE syndrome, recurrent cutaneous infections caused especially by S.
Hyper IgE syndrome (HIES), also known as Job\'s or Buckley Syndrome is a rare, genetic disorder characterized by recurrent infections with many bacteria, fungi and some viruses.
Final diagnosis was made as Hyper IgE syndrome (typical facies, invasive fungal infections, very high serum IgE levels and very low CRP) with an unusual presentation of severe anaemia, H.
High IgE levels are characteristic of the hyper IgE syndrome but also found in Omenn syndrome, which is a combined immune deficiency.
Eight papers examine these developments from such perspectives as clinical manifestations of hyper IgE syndromes, the essential role of DOCK8 in humoral immunity, DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction, and epidermodysplasia verruciformis and the susceptibility to HPV.