Ask about this productRelated genes to: RFXANK antibody
- Gene:
- RFXANK NIH gene
- Name:
- regulatory factor X associated ankyrin containing protein
- Previous symbol:
- -
- Synonyms:
- BLS, RFX-B, ANKRA1, F14150_1, MGC138628
- Chromosome:
- 19p13.11
- Locus Type:
- gene with protein product
- Date approved:
- 1998-11-19
- Date modifiied:
- 2019-04-23
Related products to: RFXANK antibody
Related articles to: RFXANK antibody
- Major histocompatibility complex (MHC) class II deficiency is a rare, life-threatening primary immunodeficiency that presents in early infancy with a SCID phenotype. However, emerging data indicate substantial clinical and immunological heterogeneity, including atypical presentations and neurological involvement. - Source: PubMed
Publication date: 2026/04/22
Haskologlu SuleAytekin CanerIslamoglu CandanKostel Bal SevgiBaskın KubraErman BaranKendirli TanılCeylaner SerdarDogu FigenIkinciogullari Aydan - : Hepatocellular carcinoma (HCC) represents an extremely lethal malignancy on a global scale. The clinical significance and molecular mechanisms of the immune-related gene in HCC remain unclear. This study seeks to elucidate the clinical implications and diagnostic utility of in HCC, while further exploring its underlying molecular mechanisms. Expression differences of in pan-cancer and HCC were analyzed using the TCGA and GEO (GSE45267) databases. Its diagnostic efficacy was evaluated by Cox regression, Kaplan-Meier survival curves, and ROC curves. Potential functional pathways were explored through GO, KEGG, and GSEA enrichment analyses. The correlation between and immune cell infiltration, as well as immune checkpoint molecules, was analyzed using the ssGSEA algorithm and CIBERSORTx. In vitro, siRNA interference was employed to knock down expression in Huh-7 and MHCC97H cells. The effects on cell proliferation and RAF1 protein levels were assessed using a CCK-8 assay and Western blot, respectively. : was significantly overexpressed in HCC tissues and was closely associated with aggressive clinical features, including pathological T stage, histological grade, and AFP levels. Multivariate Cox regression analysis confirmed that was an independent risk factor for survival in HCC patients (HR = 1.871). The area under the ROC curve (AUC) was 0.939, demonstrating excellent diagnostic predictive value. Enrichment analysis revealed a significant association with the cell cycle, PPAR signaling pathway, and lipid metabolism pathways. Immune infiltration analysis further revealed that expression was significantly positively correlated with Th2 and TFH cells, as well as key immune checkpoint molecules such as PD-1, CTLA4, and LAG3, suggesting distinct features of immune polarization and an inhibitory microenvironment. In vitro cellular experiments demonstrated that knocking down significantly inhibited the proliferative capacity of HCC cells and reduced RAF1 protein expression. : may promote HCC progression by driving a multidimensional proliferation-metabolism-immunity mechanism. holds promise as a novel biomarker for diagnostic assessment and a potential therapeutic target for HCC patients. - Source: PubMed
Publication date: 2026/03/31
Qu TaimeiTian Lv - - Source: PubMed
Publication date: 2026/01/19
Nuñez-Nuñez Maria EnriquetaValenzuela-Vazquez LuceroBustamante-Ogando Juan CarlosBayardo-Gutierrez BeatrizLona-Reyes Juan CarlosEstrada-Arce Emma ValeriaMartinez-Duncker IvanLugo-Reyes Saul OEspinosa-Padilla Sara ElvaCruz-Muñoz Mario Ernesto - Major histocompatibility complex class II (MHC II) deficiency (bare lymphocyte syndrome type II) is an autosomal-recessive combined immunodeficiency caused by pathogenic variants in the transcriptional regulators CIITA, RFXANK, RFX5, or RFXAP. While RFXANK founder mutations predominate in North Africa, CIITA-related disease is extremely rare. We report two siblings from a consanguineous Moroccan family with the classic early-infancy phenotype. The elder sister developed recurrent febrile rashes, oral candidiasis, and locoregional BCGitis with acid-fast bacilli in granulomas, followed by progressive respiratory failure and fatal cytomegalovirus pneumonitis despite antiviral therapy; immunology showed profound CD4 lymphopenia with CD4/CD8 inversion, near-absent HLA-DR on B cells, undetectable IgG/IgA, and elevated IgM. The proband, identified during family follow-up, had recurrent mucocutaneous infections, marked CD4 lymphopenia with CD4/CD8 inversion, and near-absent HLA-DR on B cells; he was started on monthly intravenous immunoglobulin and trimethoprim-sulfamethoxazole prophylaxis. Targeted next-generation sequencing revealed a novel homozygous nonsense CIITA variant (c.1615C>T; p.R539*), predicted to truncate the GTP-binding domain, abolish downstream leucine-rich repeats, and undergo nonsense-mediated decay, and classified as pathogenic according to ACMG criteria. Molecular confirmation enabled genetic counseling, cascade testing, withholding BCG, and urgent evaluation for allogeneic hematopoietic stem-cell transplantation. This case, likely the first CIITA-related MHC II deficiency reported from Morocco, expands the regional genotypic spectrum and underscores the value of early HLA-DR flow-cytometric assessment and prompt molecular testing in infants from consanguineous families to guide prophylaxis, vaccination decisions, and timely referral for curative therapy. - Source: PubMed
Publication date: 2025/11/25
Kattra Aziza BachirAilal FatimaBenhsaien IbtihalFahi MohammedDrissi Bourhanbour AsmaaElamine AhamadaAadam ZahraErrami AbderrahmaneBousfiha Ahmed AzizEl Bakkouri Jalila - An 8-month-old boy, the first child of a fourth-degree consanguineous couple with an uneventful past medical history, presented with fever and respiratory distress. He was intubated and managed with high-frequency ventilation. Chest radiography revealed bilateral white-out lungs, and his oxygenation index was 31. Pneumocystis jirovecii was identified through polymerase chain reaction of respiratory secretions. The child was treated with cotrimoxazole and systemic steroids. Due to the severity of the infection caused by an atypical organism, an underlying immunodeficiency was suspected. Genetic analysis revealed a novel homozygous mutation in the RFXANK gene, consistent with major histocompatibility complex class II deficiency. This case represents a rare inborn error of immunity with survival following a severe infection. - Source: PubMed
Publication date: 2025/10/01
Ks AswanthSatapathy DiptirekhaArun Babu Thirunavukkarasu