Activity
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| Autoinflammatory disorders v3.7 | RNF31 | Ida Ertmanska Classified gene: RNF31 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.7 | RNF31 | Ida Ertmanska Added comment: Comment on list classification: There are now more than 3 unrelated individuals with biallelic RNF31 (HOIP) variants and primary immunodeficiency with autoinflammation. Hence, this gene can be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.7 | RNF31 | Ida Ertmanska Gene: rnf31 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.6 | RNF31 |
Ida Ertmanska gene: RNF31 was added gene: RNF31 was added to Autoinflammatory disorders. Sources: Literature Q2_26_promote_green tags were added to gene: RNF31. Mode of inheritance for gene: RNF31 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF31 were set to 26008899; 30936877; 39009172; 41026334 Phenotypes for gene: RNF31 were set to Immunodeficiency 115 with autoinflammation, OMIM:620632; immunodeficiency 115 with autoinflammation, MONDO:0957981 Review for gene: RNF31 was set to GREEN Added comment: PMID: 41026334 L. Wang et al., 2025 Proband: 1-year-6-month-old Chinese boy with early-onset autoinflammation and immunodeficiency, leading to early death. He experienced recurrent fever, multiple site infections, and chronic diarrhea from the neonatal period. WES + Sanger detected comp het RNF31 variants: c.1654 C > T, p.Gln552Ter and c.3038 A > C, p.His1013Pro. Diagnosed with purulent meningitis, pneumonia, urinary tract infection, peritonitis, and growth retardation before 18 months of age. Immunophenotyping showed decrease in T cell frequency and total CD4 T cell counts. PMID: 39009172 M. Wang et al., 2024 12yo Chinese male, homozygous for c.1883del, p.Gly628Alafs*52 in RNF31. He presented with infectious mononucleosis, necrotizing lymphadenitis, sepsis, primary peritonitis, lobar pneumonia, and recurrent viral and bacterial infections. Functional: variant impairs MAPK signalling and sensitizes cells to TNF-induced cell death. PMID: 30936877 Oda et al., 2019 8 year-old girl who presented with early-onset immune deficiency and autoinflammation. Noted to have eczematous dermatitis and chronic inflammation on skin biopsy. She had comp het variants in RNF31: c.1197G>C and c.1737+3A>G. RNA extracted from patient cells showed alternatively spliced transcripts not present in control cells PMID: 26008899 Boisson et al., 2015 Female patient born to consanguineous parents of Kuwaiti descent; presented with multiorgan autoinflammation, systemic lymphangiectasia, weakness at lower extremities, subclinical amylopectinosis, and a combined immunodeficiency manifesting as chronic diarrhea and recurrent viral and bacterial infections, associated with lymphopenia, antibody deficiency and an impaired distribution and function of T lymphocytes. She was homozygous for c.215T>C, p.Leu72Pro in RNF31. The association between RNF31 and AR immunodeficiency 115 with autoinflammation was classified as Moderate in ClinGen (SCID-CID GCEP, 2025). Sources: Literature |
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