Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome (Q36901678)

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27 February 2020

title

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome (English)

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27 February 2020

10

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Ahmed M. Gharib

16

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Eleonora Gambineri

19

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1

Gulbu Uzel

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27 February 2020

author name string

Elizabeth P Sampaio

2

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27 February 2020

Monica G Lawrence

3

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Amy P Hsu

4

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Mary Hackett

5

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Morna J Dorsey

6

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Richard J Noel

7

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James W Verbsky

8

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Alexandra F Freeman

9

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Francisco A Bonilla

11

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Joseph Pechacek

12

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Prabha Chandrasekaran

13

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Sarah K Browne

14

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Anahita Agharahimi

15

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Sara C Mannurita

17

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Jae Joon Yim

18

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Troy Torgerson

20

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Dat Q Tran

21

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Joshua D Milner

22

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Steven M Holland

23

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language of work or name

English

0 references

publication date

25 March 2013

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The Journal of Allergy and Clinical Immunology

27 February 2020

published in

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volume

131

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27 February 2020

page(s)

1611-1623

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issue

6

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Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity

27 February 2020

cites work

1 reference

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Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

29 September 2017

1 reference

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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

29 September 2017

1 reference

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STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

29 September 2017

1 reference

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STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease

29 September 2017

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Plasticity of human regulatory T cells in healthy subjects and patients with type 1 diabetes.

29 September 2017

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Expression of Helios, an Ikaros transcription factor family member, differentiates thymic-derived from peripherally induced Foxp3+ T regulatory cells

29 September 2017

1 reference

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Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.

29 September 2017

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Regulatory T cells in primary immunodeficiency diseases

29 September 2017

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells

29 September 2017

1 reference

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IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

29 September 2017

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Induction of FOXP3 expression in naive human CD4+FOXP3 T cells by T-cell receptor stimulation is transforming growth factor-beta dependent but does not confer a regulatory phenotype

29 September 2017

1 reference

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CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes

29 September 2017

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

29 September 2017

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IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena

29 September 2017

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

29 September 2017

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Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

29 September 2017

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Blocking the NOTCH pathway inhibits vascular inflammation in large-vessel vasculitis

29 September 2017

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Determination of human anticytokine autoantibody profiles using a particle-based approach.

27 June 2018

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Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency

4 September 2018

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Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23534974

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Growth hormone insensitivity associated with a STAT5b mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23534974

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2012.11.054

1 reference

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27 February 2020

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27 February 2020

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