Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy (Q34442887)

2 August 2017

0 references

Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy (English)

1 reference

2 August 2017

1 reference

11

1 reference

2 August 2017

Jean-Laurent Casanova

12

1 reference

2 August 2017

Hindi Al-Hindi

6

0 references

author name string

Mohammed Al-Owain

1

1 reference

2 August 2017

Namik Kaya

2

1 reference

2 August 2017

Hamad Al-Zaidan

3

1 reference

2 August 2017

Ibrahim Bin Hussain

4

1 reference

2 August 2017

Hadeel Al-Manea

5

1 reference

2 August 2017

Shelley Kennedy

7

1 reference

2 August 2017

M Anwar Iqbal

8

1 reference

2 August 2017

Hamad Al-Mojalli

9

1 reference

2 August 2017

Albandary Al-Bakheet

10

1 reference

2 August 2017

Saleh Al-Muhsen

13

1 reference

2 August 2017

language of work or name

1 reference

14 December 2010

1 reference

Clinical and Developmental Immunology

2 August 2017

published in

1 reference

2 August 2017

volume

2010

1 reference

2 August 2017

page(s)

586342

1 reference

Creative Commons Attribution 3.0 Unported

2 August 2017

copyright license

start time

1 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

TLR3 deficiency in patients with herpes simplex encephalitis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

The role of Toll-like receptor signalling in the pathogenesis of arthritis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

The phenotype of patients with 4q-syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Positional cloning of the APECED gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Terminal deletion of the long arm of chromosome 4 in a mother and two sons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Del(4)(q33----qter): another case report of a child with mild dysmorphism.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity.

6 July 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F586342

Terminal deletion 4q in a severely retarded boy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F586342

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F586342

APECED-causing mutations in AIRE reveal the functional domains of the protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F586342

Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F586342

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010696

Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q

27 October 2018

1 reference

12 December 2020

Two newborns with chromosome 4 imbalances: deletion 4q33-->q35 and ring r(4)(pterq35.2-qter)

1 reference

12 December 2020

4q33-qter deletion and absorptive hypercalciuria: report of two unrelated girls

1 reference

12 December 2020

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients

1 reference

12 December 2020

Identifiers

DOI

10.1155/2010/586342

1 reference

2 August 2017

1 reference

2 August 2017

1 reference