| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.550 | GeneticVariation | disease | BEFREE | Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively. | 30732127 | 2019 | ||||
|
0.550 | GeneticVariation | disease | BEFREE | Ten patients were detected to have mutations in DOCK8 gene and autosomal recessive HIES (AR-HIES); and four patients were found with STAT3 mutation and autosomal dominant HIES (AD-HIES). | 30279075 | 2019 | ||||
|
0.550 | Biomarker | disease | BEFREE | Moreover, the infection trends in some patients with PID disease who have profound defects of cellular immunity, such as autosomal-dominant hyper-IgE syndrome (Job/Buckley syndrome) or dedicator of cytokinesis 8 (DOCK8) deficiency, suggest that select patients might benefit from immunoglobulin replacement therapy even if their immunodeficiency is not limited to antibody defects. | 30536429 | 2018 | ||||
|
0.550 | GeneticVariation | disease | BEFREE | Somewhat arbitrarily, three disorders were successively put forward as the underlying cause of HIES: autosomal dominant (AD) STAT3 deficiency, the only disorder corresponding to the original definition of HIES, and autosomal recessive (AR) DOCK8 and PGM3 deficiencies, in which atopy and high serum IgE levels occur in a context of manifestations not seen in patients with typical HIES. | 30094507 | 2018 | ||||
|
0.550 | Biomarker | disease | BEFREE | The autosomal recessive hyper-IgE syndrome (HIES) caused by dedicator of cytokinesis 8 (DOCK8) deficiency shares clinical features with autosomal dominant HIES because of signal transducer and activator of transcription 3 (STAT3) mutations, including recurrent infections and mucocutaneous candidiasis, which are suggestive of T<sub>H</sub>17 cell dysfunction. | 27350570 | 2016 | ||||
|
0.550 | Biomarker | disease | GENOMICS_ENGLAND | The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. | 25724123 | 2015 | ||||
|
0.550 | Biomarker | disease | CTD_human |