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
- - 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 - Major histocompatibility complex class (MHC)-II deficiency is a rare autosomal recessive combined immunodeficiency, accounting for 4.1% of inborn errors of immunity (IEI) cases in North Africa and the Middle East. Most patients do not survive beyond the age of 10 years. The cases described in this study are rare and unusual for MHC-II deficiency. We report the cases of four unrelated patients of Moroccan origin with MHC-II deficiency. Immunophenotyping of lymphocyte subpopulations and analysis of human leukocyte antigen-DR (HLA-DR) expression were performed using flow cytometry. Genetic analysis was conducted through direct sequencing. The mean age of our patients was 18.75 years (range 16-26 years); the mean age at diagnosis was 14.07 years, and the mean age of onset of symptoms was 5.25 months. The clinical presentation is characterized by recurrent pulmonary infections with predominant bronchial dilatation and hemorrhagic rectocolitis. The diagnosis was confirmed in all patients by absence of HLA-DR expression and detection of the c.338-25_338del mutation in . Three (75%) of our patients are still alive and are on monthly intravenous immunoglobulin (IVIG) therapy. It is important to consider MHC-II deficiency in the differential diagnosis of combined immunodeficiencies across all age groups. Further studies are needed to elucidate the various phenotypes associated with this condition. - Source: PubMed
Publication date: 2025/07/27
Kattra Aziza BachirBenhsaien IbtihalDrissi Bourhanbour AsmaaAadam ZahraErrami AbderrahmaneAilal FatimaBousfiha Ahmed AzizEl Bakkouri Jalila - Metabolic dysfunction-associated steatotic liver disease (MASLD) occurs across a wide spectrum of body weights, yet the genetic determinants underlying hepatic steatosis in individuals with normal BMI remain underexplored. This study aimed to identify genetic variants associated with liver fat fraction in normal-weight individuals. - Source: PubMed
Publication date: 2025/05/14
Piras Ignazio SDon JanithSchork Nicholas JDiStefano Johanna K