Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome (Q24679039)

Journal of Medical Genetics

Europe PubMed Central

title

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

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author name string

R S Wildin

series ordinal

1

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S Smyk-Pearson

series ordinal

2

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A H Filipovich

series ordinal

3

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language of work or name

English

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publication date

August 2002

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published in

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volume

39

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issue

8

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page(s)

537-45

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cites work

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Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation

7 April 2017

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Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

7 April 2017

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X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

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Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes

7 April 2017

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CD4 CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse

7 April 2017

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The murine mutation scurfy (sf) results in an antigen-dependent lymphoproliferative disease with altered T cell sensitivity

7 April 2017

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

7 April 2017

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

7 April 2017

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28 September 2017

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The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome

28 September 2017

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Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans

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The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome

28 September 2017

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

30 May 2018

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[Neonatal diabetes mellitus associated with an autoimmune disease]

28 November 2018

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2 cases of neonatal diabetes

28 November 2018

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Successful treatment of autoimmune enteropathy with cyclosporine

28 November 2018

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12 December 2020

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12 December 2020

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12 December 2020

Congenital Diabetes Mellitus and Fatal Secretory Diarrhea in Two Infants

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12 December 2020

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

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12 December 2020

Congenital autoimmune diabetes mellitus

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12 December 2020

A long-term survivor with the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

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12 December 2020

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

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12 December 2020

Autoantibodies against gut epithelium in child with small-intestinal enteropathy

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12 December 2020

Familial occurrence of renal and intestinal disease associated with tissue autoantibodies

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12 December 2020

Could protracted diarrhoea of infancy have an autoimmune pathogenesis?

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12 December 2020

Congenital permanent diabetes mellitus and celiac disease

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12 December 2020

Celiac disease in insulin-dependent diabetes mellitus

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12 December 2020

Identifiers

DOI

10.1136/JMG.39.8.537

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PubMed publication ID

12161590

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