RFXAP antibody - middle region (ARP33226_P050)
- Known as:
- RFXAP (anti-) - middle region (ARP33226_P050)
- Catalog number:
- arp33226_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- RFXAP antibody - middle region (ARP33226_P050)
Related genes to: RFXAP antibody - middle region (ARP33226_P050)
- Gene:
- RFXAP NIH gene
- Name:
- regulatory factor X associated protein
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 13q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1997-11-05
- Date modifiied:
- 2019-04-23
Related products to: RFXAP antibody - middle region (ARP33226_P050)
Related articles to: RFXAP antibody - middle region (ARP33226_P050)
- 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 - 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 - Pancreatic ductal adenocarcinoma (PDAC) continues to exhibit resistance to immunotherapy. In this study, we evaluated the efficacy of combining immunotherapy with chemotherapy for the treatment of advanced pancreatic cancer. Additionally, we employed a multimodal analytical approach to elucidate the immune landscape and conduct transcriptomic profiling in PDAC. - Source: PubMed
Publication date: 2025/10/02
Wu MengyaoLi GeLi YechengChen KaiXu MengdanLi DapengXu CaihuaShen MengLi WeiCao Jinming - The tumor microenvironment and IRGs are highly correlated with tumor occurrence, progression, and prognosis. However, their roles in grade II and III gliomas, termed LGGs in this study, remain to be fully elucidated. Our research aims to develop immune-related features for risk stratification and prognosis prediction in LGG. - Source: PubMed
Publication date: 2024/08/12
Wang ShuowenWang ZijunLiu ZhuoWu Jianxin - The transcription factor regulatory factor X 7 (RFX7) has been identified as a tumor suppressor that is recurrently mutated in lymphoid cancers and appears to be dysregulated in many other cancers. RFX7 is activated by the well-known tumor suppressor p53 and regulates several other known tumor suppressor genes. However, what other factors regulate RFX7 and its target genes remains unclear. Here, reporter gene assays were used to identify that RFX7 regulates the tumor suppressor gene PDCD4 through direct interaction with its X-box promoter motif. We utilized mass spectrometry to identify factors that bind to DNA together with RFX7. In addition to RFX7, we also identified RFX5, RFXAP, RFXANK, and ANKRA2 that bind to the X-box motif in the PDCD4 promoter. We demonstrate that ANKRA2 is a bona fide direct p53 target gene. We used transcriptome analyses in two cell systems to identify genes regulated by ANKRA2, its sibling RFXANK, and RFX7. These results revealed that ANKRA2 functions as a critical cofactor of RFX7, whereas RFXANK regulates largely distinct gene sets. - Source: PubMed
Publication date: 2024/08/24
Schwab KatjanaRiege KonstantinCoronel LuisStanko ClaraFörste SilkeHoffmann SteveFischer Martin