Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course (Q40623771)

22 September 2017

title

Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course (English)

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combined immunodeficiency

22 September 2017

main subject

1 reference

1 reference

https://api.crossref.org/works/10.1007/S00251-003-0609-2

24 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00251-003-0609-2

Catherine Alcaide-Loridan

24 March 2024

author

7

object named as

Catherine Alcaide-Loridan

0 references

Giovanna Barbieri

3

object named as

Giovanna Barbieri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14574520

24 March 2024

author name string

Thomas Prod'homme

1

1 reference

22 September 2017

Benjamin Dekel

2

1 reference

22 September 2017

Barbara Lisowska-Grospierre

4

1 reference

22 September 2017

Rina Katz

5

1 reference

22 September 2017

Dominique Charron

6

1 reference

22 September 2017

Shimon Pollack

8

1 reference

22 September 2017

language of work or name

English

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publication date

22 October 2003

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full work available at URL

22 September 2017

http://link.springer.com/content/pdf/10.1007/s00251-003-0609-2.pdf

file format

Portable Document Format

1 reference

DOI

https://api.crossref.org/works/10.1007/S00251-003-0609-2

http://link.springer.com/article/10.1007/s00251-003-0609-2/fulltext.html

24 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00251-003-0609-2

http://link.springer.com/content/pdf/10.1007/s00251-003-0609-2

24 March 2024

1 reference

DOI

https://api.crossref.org/works/10.1007/S00251-003-0609-2

24 March 2024

1 reference

22 September 2017

volume

55

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22 September 2017

issue

8

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22 September 2017

page(s)

530-539

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Regulation of major histocompatibility complex class-II genes: X, Y and other letters of the alphabet

22 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00251-003-0609-2

Functional complementation of major histocompatibility complex class II regulatory mutants by the purified X-box-binding protein RFX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00251-003-0609-2

Involvement of CREB binding protein in expression of major histocompatibility complex class II genes via interaction with the class II transactivator

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00251-003-0609-2

Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00251-003-0609-2

Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00251-003-0609-2

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00251-003-0609-2

Mutation in the class II trans-activator leading to a mild immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00251-003-0609-2

Constitutive expression of MHC class II genes in melanoma cell lines results from the transcription of class II transactivator abnormally initiated from its B cell-specific promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00251-003-0609-2

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients

21 January 2018

1 reference

12 December 2020

CREB regulates MHC class II expression in a CIITA-dependent manner

1 reference

12 December 2020

Adenosine deaminase deficiency in adults

1 reference

12 December 2020

Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.

1 reference

12 December 2020

Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta

1 reference

12 December 2020

Associations and interactions between bare lymphocyte syndrome factors

1 reference

12 December 2020

Nuclear localisation of CIITA is controlled by a carboxy terminal leucine-rich repeat region

1 reference

12 December 2020

RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency

1 reference

12 December 2020

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)

1 reference

12 December 2020

Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex

1 reference

12 December 2020

A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome

1 reference

12 December 2020

Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA.

1 reference

12 December 2020

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery

1 reference

12 December 2020

Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome

1 reference

12 December 2020

Molecular characterization of major histocompatibility complex class II gene expression and demonstration of antigen-specific T cell response indicate a new phenotype in class II-deficient patients

1 reference

12 December 2020

Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors

1 reference

12 December 2020

Leucine-rich repeats of the class II transactivator control its rate of nuclear accumulation.

1 reference

12 December 2020

Two complementation groups account for most cases of inherited MHC class II deficiency

1 reference

12 December 2020

Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome

1 reference

12 December 2020

RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency

1 reference

12 December 2020

Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.

1 reference

12 December 2020

Immunodeficiency with low expression of the T cell receptor/CD3 complex. Effect on T lymphocyte activation

1 reference

12 December 2020

Detection of a novel human class II HLA antigen

1 reference

12 December 2020

Sequences and factors: a guide to MHC class-II transcription

1 reference

12 December 2020

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype

1 reference

12 December 2020

Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis

1 reference

12 December 2020

The class II trans-activator CIITA interacts with the TBP-associated factor TAFII32

1 reference

12 December 2020

Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome

1 reference

12 December 2020

Brief report: twin boys with major histocompatibility complex class II deficiency but inducible immune responses

1 reference

12 December 2020

Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA.

1 reference

12 December 2020

A multiplicity of CCAAT box-binding proteins

1 reference

12 December 2020

The molecular basis of MHC class II deficiency and transcriptional control of MHC class II gene expression.

1 reference

12 December 2020

Bone marrow transplantation in major histocompatibility complex class II deficiency: a single-center study of 19 patients

1 reference

12 December 2020

Transcriptional scaffold: CIITA interacts with NF-Y, RFX, and CREB to cause stereospecific regulation of the class II major histocompatibility complex promoter

1 reference

12 December 2020

Assembly, transport, and function of MHC class II molecules

1 reference

12 December 2020

Identifiers

DOI

1 reference

22 September 2017

1 reference