(Q50525033)

English

A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

scientific article published on 7 October 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

author name string

Keun Wook Bae

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

Bo Eun Kim

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

Jin-Ho Choi

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

Joo Hoon Lee

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

Young Seo Park

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

Gu-Hwan Kim

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

Han Wook Yoo

7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

Jong Jin Seo

8

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

publication date

7 October 2011

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

170

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

12

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

1611-1615

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

A remarkable depletion of both naïve CD4+ and CD8+ with high proportion of memory T cells in an IPEX infant with a FOXP3 mutation in the forkhead domain.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Educational paper: Primary immunodeficiencies in children: a diagnostic challenge

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Diagnosis and management of acquired pure red cell aplasia

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Reversible posterior leukoencephalopathy syndrome: a misnomer reviewed

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

FOXP3: of mice and men.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

A new case of IPEX receiving bone marrow transplantation

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1588-1

21 January 2018

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21979562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21979562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21979562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular characteristics of immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21979562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IPEX as a result of mutations in FOXP3

1 reference

https://pubmed.ncbi.nlm.nih.gov/21979562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium-term survival without haematopoietic stem cell transplantation in a case of IPEX: insights into nutritional and immunosuppressive therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21979562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother

1 reference

https://pubmed.ncbi.nlm.nih.gov/21979562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21979562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21979562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-011-1588-1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21979562

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