The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes (Q24540091)

6 July 2017

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title

The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes (English)

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6 July 2017

Bare lymphocyte syndrome

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A DeSandro

1

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6 July 2017

U M Nagarajan

series ordinal

2

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6 July 2017

J M Boss

series ordinal

3

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6 July 2017

language of work or name

English

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publication date

1 August 1999

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American Journal of Human Genetics

6 July 2017

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6 July 2017

65

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6 July 2017

2

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6 July 2017

279-286

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

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Activation of class II MHC genes requires both the X box region and the class II transactivator (CIITA)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

HLA-DM induces CLIP dissociation from MHC class II alpha beta dimers and facilitates peptide loading

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Orientation and positional mapping of the subunits of the multicomponent transcription factors RFX and X2BP to the major histocompatibility complex class II transcriptional enhancer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Interactions between the class II transactivator and CREB binding protein increase transcription of major histocompatibility complex class II genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

CIITA stimulation of transcription factor binding to major histocompatibility complex class II and associated promoters in vivo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Genetic and molecular definition of complementation group D in MHC class II deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Induction of MHC class I expression by the MHC class II transactivator CIITA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Combined immunodeficiency with defective expression in MHC class II genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Stable variants affecting B cell alloantigens in human lymphoid cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Regulation of transcription of MHC class II genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Major histocompatibility complex class II deficiency: a clinical review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Human MHC class II gene transcription directed by the carboxyl terminus of CIITA, one of the defective genes in type II MHC combined immune deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

In vivo footprinting of MHC class II genes: bare promoters in the bare lymphocyte syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Segregation of MHC class II molecules from MHC class I molecules in the Golgi complex for transport to lysosomal compartments

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Genetic complexity of regulatory mutants defective for HLA class II gene expression

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Reactivation of a major histocompatibility complex class II gene in mouse plasmacytoma cells and mouse T cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

Characterization of the expressed CIITA allele in the class II MHC transcriptional mutant RJ2.2.5.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377925

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

29 November 2018

1 reference

12 December 2020

Mice lacking the MHC class II transactivator (CIITA) show tissue-specific impairment of MHC class II expression

1 reference

12 December 2020

Site alpha is crucial for two routes of IFN gamma-induced MHC class I transactivation: the ISRE-mediated route and a novel pathway involving CIITA

1 reference

12 December 2020

Mice lacking the transcription factor CIITA--a second look

1 reference

12 December 2020

A defect in the nuclear translocation of CIITA causes a form of type II bare lymphocyte syndrome

1 reference

12 December 2020

Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency

1 reference

7 January 2021

Identification of a trans-acting function regulation HLA-DR expression in a DR-negative B cell variant

1 reference

7 January 2021

Regulation of MHC class I and II gene transcription: differences and similarities

1 reference

7 January 2021

Molecular analysis of G1B and G3A IFN gamma mutants reveals that defects in CIITA or RFX result in defective class II MHC and Ii gene induction

1 reference

7 January 2021

Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X.

1 reference

7 January 2021

The CBP co-activator is a histone acetyltransferase

1 reference

7 January 2021

Regulation of a transfected human class II major histocompatibility complex gene in human fibroblasts

1 reference

7 January 2021

Conserved upstream sequences of human class II major histocompatibility genes enhance expression of class II genes in wild-type but not mutant B-cell lines

1 reference

7 January 2021

Recombinant rat CBF-C, the third subunit of CBF/NFY, allows formation of a protein-DNA complex with CBF-A and CBF-B and with yeast HAP2 and HAP3

1 reference

7 January 2021

Class II transactivator (CIITA) is sufficient for the inducible expression of major histocompatibility complex class II genes.

1 reference

7 January 2021

Two B cell factors bind the HLA-DRA X box region and recognize different subsets of HLA class II promoters

1 reference

7 January 2021

The DNA-binding defect observed in major histocompatibility complex class II regulatory mutants concerns only one member of a family of complexes binding to the X boxes of class II promoters

1 reference

7 January 2021

Complex architecture of major histocompatibility complex class II promoters: reiterated motifs and conserved protein-protein interactions

1 reference

7 January 2021

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

7 January 2021

Identifiers

DOI

10.1086/302519

1 reference

OpenCitations bibliographic resource ID

6 July 2017

3334904

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

6 July 2017

1 reference