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AR and lymphoma are reported together in 1 article.
Gene
AR
- HGNC
- HGNC:644
61articles
61mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Lymphoma
428articles
428mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation.
PMID 27890707 | DOI 10.1016/j.clim.2016.08.002 · Clinical immunology (Orlando, Fla.) · 2017 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AR | “BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age.” | 0.98 | hgnc_dict_v1 |
| phenotype | lymphoma | “One patient died with lymphoma while another died with progressive multifocal leukoencephalopathy (PML) due to a slow virus.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | DOCK8 | “BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age.” | 0.98 | hgnc_dict_v1 |
| population | Population | “CONCLUSION: We report 3 patients from a consanguineous family diagnosed with AR-HIES due to a novel pathogenic mutation in DOCK8 gene leading to fatal outcome in 2 patients and complete resolution of the clinical and immunological features in the third patient by HSCT.” | 0.80 | saudi_context_rules_v1 |