| Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population. | Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
Mousavi Khorshidi MS, Seeleuthner Y, Chavoshzadeh Z, Behfar M, Hamidieh AA, Alimadadi H, Sherkat R, Momen T, Behniafard N, Eskandarzadeh S, Mansouri M, Behnam M, Mahdavi M, Heydarazad Zadeh M, Shokri M, Alizadeh F, Movahedi M, Momenilandi M, Keramatipour M, Casanova JL, Cobat A, Abel L, Shahrooei M, Parvaneh N. | 12/1/2023 |
| Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK. | Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK.
Gao J, Xu C. | 09/19/2020 |
| this study reports an 8 month-old girl with MHC class II deficiency with a novel homozygous mutation in RFXANK gene and normal CD4+ T cell counts, diagnosed by whole exome sequencing and negative HLA-DR proteins on peripheral blood mononuclear cell in flow cytometry | MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report.
Abolnezhadian F, Saeedi-Boroujeni A, Iranparast S. | 09/14/2019 |
| these data identify a novel caspase-2-interacting factor, RFXANK, and indicate a potential non-apoptotic role for the enzyme in the control of MHC class II gene regulation. | A caspase-2-RFXANK interaction and its implication for MHC class II expression.
Forsberg J, Li X, Akpinar B, Salvatori R, Ott M, Zhivotovsky B, Olsson M., Free PMC Article | 06/22/2019 |
| mutation results in Bare Lymphocyte Syndrome, Type 2 in a child of Mexican descent | Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent.
Clarridge K, Leitenberg D, Loechelt B, Picard C, Keller M., Free PMC Article | 10/22/2016 |
| genetic, clinical, and immunologic features of 35 patients from 30 unrelated kindreds from North Africa sharing the same RFXANK founder mutation, a 26-bp deletion called I5E6-25_I5E6 + 1) | Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C. | 01/7/2012 |
| Findings confirm the association between the high frequency of the combined immunodeficiency and the defect in MHC class II expression and provides strong evidence for a founder effect of the 752delG26 mutation in the North African population. | The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.
Naamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, Hassar M, Saile R, Bousfiha AA. | 01/1/2011 |
| RFXAP and RFXB have roles in relieving autoinhibition of RFX5 | Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.
Garvie CW, Boss JM. | 01/21/2010 |
| analysis of RFXANK domains and function | New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.
Krawczyk M, Masternak K, Zufferey M, Barras E, Reith W., Free PMC Article | 01/21/2010 |
| in vivo effects of mutations on the expression of the RFXANK RNA and protein | Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
Wiszniewski W, Fondaneche MC, Louise-Plence P, Prochnicka-Chalufour A, Selz F, Picard C, Le Deist F, Eliaou JF, Fischer A, Lisowska-Grospierre B. | 01/21/2010 |
| ANKRA, RFXANK, and CIITA are novel targets of class IIa HDACs which may deacetylases play a role in regulating MHCII expression | Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases.
Wang AH, Grégoire S, Zika E, Xiao L, Li CS, Li H, Wright KL, Ting JP, Yang XJ. | 01/21/2010 |
| Low levels of RFX-B are found in macrophages of colorectal cancer patients, partly explaining immunodeficiency in cancer. | RFX-B, a MHC class II transcription factor, suppressed in human colorectal adenocarcinomas.
Dimberg J, Hugander A, Häll-Karlsson BM, Sirsjö A. | 01/21/2010 |