(Q36923083)

17 August 2017

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey (English)

1 reference

17 August 2017

1 reference

4

1 reference

17 August 2017

43

1 reference

17 August 2017

Jean-Laurent Casanova

45

1 reference

17 August 2017

47

1 reference

17 August 2017

46

Alain Fischer

0 references

Yvon Lebranchu

12

Yvon Lebranchu

0 references

Marianne Debré

30

Marianne Debré

0 references

Isabelle Melki

Isabelle Melki

2

0 references

Marie-Olivia Chandesris

Marie-Olivia Chandesris

1

0 references

David Boutboul

David Boutboul

9

0 references

Nizar Mahlaoui

Nizar Mahlaoui

28

0 references

Brigitte Bader-Meunier

Brigitte Bader-Meunier

27

0 references

Anne Durandy

Anne Durandy

40

0 references

Olivier Lortholary

44

Olivier Lortholary

1 reference

17 August 2017

15

Nathalie Aladjidi

1 reference

17 August 2017

11

Cyrille Hoarau

1 reference

17 August 2017

25

Fanny Fouyssac

1 reference

17 August 2017

24

Martine Munzer

1 reference

17 August 2017

41

Christine Bodemer

1 reference

17 August 2017

5

Claire Fieschi

1 reference

17 August 2017

42

Felipe Suarez

1 reference

17 August 2017

33

Nathalie Lambert

1 reference

17 August 2017

7

Caroline Thumerelle

1 reference

17 August 2017

34

Virginie Grandin

1 reference

17 August 2017

29

Stéphane Blanche

1 reference

17 August 2017

38

Monique Forveille

1 reference

17 August 2017

35

Stéphanie Ndaga

1 reference

17 August 2017

8

Eric Oksenhendler

1 reference

17 August 2017

Angels Natividad

3

1 reference

17 August 2017

Ling Yun

6

1 reference

17 August 2017

Caroline Thomas

10

1 reference

17 August 2017

Jean-Louis Stephan

13

1 reference

17 August 2017

Celine Cazorla

14

1 reference

17 August 2017

Marguerite Micheau

16

1 reference

17 August 2017

François Tron

17

1 reference

17 August 2017

André Baruchel

18

1 reference

17 August 2017

Vincent Barlogis

19

1 reference

17 August 2017

Gilles Palenzuela

20

1 reference

17 August 2017

Catherine Mathey

21

1 reference

17 August 2017

Stéphane Dominique

22

1 reference

17 August 2017

Gérard Body

23

1 reference

17 August 2017

Rolland Jaussaud

26

1 reference

17 August 2017

Muriel Le Bourgeois

31

1 reference

17 August 2017

Virginie Gandemer

32

1 reference

17 August 2017

Corinne Jacques

36

1 reference

17 August 2017

Chantal Harre

37

1 reference

17 August 2017

Marie-Alexandra Alyanakian

39

1 reference

17 August 2017

language of work or name

English

0 references

publication date

1 July 2012

1 reference

17 August 2017

1 reference

17 August 2017

91

1 reference

17 August 2017

4

1 reference

17 August 2017

e1-19

1 reference

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Invasive fungal disease in autosomal-dominant hyper-IgE syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Revised definitions of invasive fungal disease from the European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

29 September 2017

The hyper-IgE syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

TH17 cells in development: an updated view of their molecular identity and genetic programming

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Cytokine signaling modules in inflammatory responses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Constitutively activated STAT3 promotes cell proliferation and survival in the activated B-cell subtype of diffuse large B-cell lymphomas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

STAT3 mutations in the hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

The JAK-STAT signaling pathway: input and output integration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Stats: transcriptional control and biological impact

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Multilevel dysregulation of STAT3 activation in anaplastic lymphoma kinase-positive T/null-cell lymphoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

A new mathematical model for relative quantification in real-time RT-PCR

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Hyperimmunoglobulin-E syndrome with recurrent infection: a review of current opinion and treatment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Genetic linkage of hyper-IgE syndrome to chromosome 4.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Interleukin-6-type cytokine signalling through the gp130/Jak/STAT pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Extreme hyperimmunoglobulinemia E and undue susceptibility to infection

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Clinical and immunologic aspects of the hyperimmunoglobulin E syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Abnormalities in the Regulation of Human IgE Synthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Hyperimmunoglobulin E syndrome with a novel STAT3 mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Cytokine-Mediated Bone Resorption in Patients with the Hyperimmunoglobulin E Syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Craniosynostosis in hyper-IgE-syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Increased in vitro bone resorption by monocytes in the hyper-immunoglobulin E syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Clinical aspects and genetic analysis of Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Coccidioides immitis meningitis in a patient with hyperimmunoglobulin E syndrome due to a novel mutation in signal transducer and activator of transcription.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

A novel mutation in the linker domain of the signal transducer and activator of transcription 3 gene, p.Lys531Glu, in hyper-IgE syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Reduced memory B cells in patients with hyper IgE syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Osteoclast size is controlled by Fra-2 through LIF/LIF-receptor signalling and hypoxia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Causes of death in hyper-IgE syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

STAT3 is constitutively activated in Hodgkin cell lines

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Evaluation of flow cytometric methods for diagnosis of chronic granulomatous disease variants under routine laboratory conditions.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Job's Syndrome. Recurrent, "cold", staphylococcal abscesses

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Defect in neutrophil granulocyte chemotaxis in Job's syndrome of recurrent "cold" staphylococcal abscesses

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Cranial synostosis in Job's syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

STAT3Mutation in the Original Patient with Job's Syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

Diffuse Large B-Cell Lymphoma in Hyperimmunoglobulinemia E Syndrome

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3680355

STAT3 is required for IL-21-induced secretion of IgE from human naive B cells

4 December 2018

1 reference

12 December 2020

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

1 reference

12 December 2020

Destructive pulmonary staphylococcal infection in a boy with hyper-IgE syndrome: a novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene (p.Y657S)

1 reference

12 December 2020

Serum IgD concentrations in normal infants, children, and adults and in patients with elevated IgE

1 reference

12 December 2020

[The hyper-IgE-syndrome (Buckley- or Job-syndrome)]

1 reference

12 December 2020

Antibody responses to protein, polysaccharide, and ΦX174 antigens in the hyperimmunoglobulinemia E (hyper-IgE) syndrome

1 reference

12 December 2020

The diagnosis of osteoporosis

1 reference

12 December 2020

1 reference

12 December 2020

Efficacy of long-term sulfamethoxazole-trimethoprim therapy in a boy with hyperimmunoglobulin E syndrome

1 reference

12 December 2020

10.1097/MD.0B013E31825F95B9

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

22751495

1 reference