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PNP and systemic lupus erythematosus are reported together in 2 articles.
Gene
PNP
- HGNC
- HGNC:7892
6articles
6mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Systemic lupus erythematosus
191articles
191mentions
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
2 records shown · first 60Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.
PMID 33563058 | DOI 10.1080/14397595.2021.1886627 · Modern rheumatology · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PNP | “The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PIK3CD | “The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3.” | 0.98 | hgnc_dict_v1 |
| gene | STAT1 | “The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3.” | 0.98 | hgnc_dict_v1 |
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
PMID 32514656 | DOI 10.1007/s10875-020-00800-y · Journal of clinical immunology · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PNP | “BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency accounts for about 4% of severe combined immunodeficiency diseases.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lymphoma | “A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “CASE PRESENTATION: An 8-year-old Saudi female who was apparently healthy presented at the age of 7 years with confirmed systemic lupus erythematosus (SLE) and lupus nephritis that were poorly controlled with conventional therapy.” | 0.95 | saudi_context_rules_v1 |