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List of works by Claire Fieschi

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

scientific article published on February 2007

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors

scientific article published on 3 June 2004

A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo

scientific article published on 4 March 2008

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

scientific article published on 28 December 2015

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

scientific article published on 10 October 2013

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

scientific article

Autoimmune cytopenias associated with inflammatory bowel diseases: Insights from a multicenter retrospective cohort

scientific article

Autoimmune hemolytic anemia and nodular lymphocyte-predominant hodgkin lymphoma: a rare association.

scientific article published on 28 April 2013

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

scientific article published on July 2012

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

scientific article published on 01 November 2004

Characteristics of non-Hodgkin lymphoma arising in HIV-infected patients with suppressed HIV replication

scientific article

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

scientific article

Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features

scientific article published on 24 February 2006

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

scientific article published on 01 June 2020

Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]

scholarly article published in Seminars in Immunology

Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency

scientific article published in March 2006

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

scientific article published on 01 June 2020

Exclusion of Patients with a Severe T-Cell Defect Improves the Definition of Common Variable Immunodeficiency

scientific article published on 10 August 2016

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

scientific article

From idiopathic infectious diseases to novel primary immunodeficiencies

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

scientific article

Gains of glycosylation mutations

scientific article

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

scientific article

Good syndrome: an adult-onset immunodeficiency remarkable for its high incidence of invasive infections and autoimmune complications

scientific article published on 31 March 2015

Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients

scientific article

High risk of infectious disease caused by salmonellae and mycobacteria infections in patients with Crohn disease treated with anti-interleukin-12 antibody

scientific article published in May 2005

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

scientific article (publication date: 4 September 2012)

Human herpesvirus 8+ polyclonal IgMλ B-cell lymphocytosis mimicking plasmablastic leukemia/lymphoma in HIV-infected patients

scientific article published on 18 September 2013

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

scientific article

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

scientific article published on 25 September 2006

Infections in 252 patients with common variable immunodeficiency

scientific article

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

scientific article published on 08 January 2021

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

scientific article published on 17 April 2017

Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children

scientific article published on 23 August 2005

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

scientific article published on 17 December 2001

Intensive chemotherapy regimen (LMB86) for St Jude stage IV AIDS-related Burkitt lymphoma/leukemia: a prospective study

scientific article

Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans

scientific article published on 7 October 2004

Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis

scientific article published on 17 February 2005

Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection

scientific article published on 24 June 2003

Low Circulating Natural Killer Cell Counts are Associated With Severe Disease in Patients With Common Variable Immunodeficiency

scientific article published on 2 March 2016

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

scientific article

Multicentric Castleman disease in an HHV8-infected child born to consanguineous parents with systematic review

scientific article published on 12 December 2011

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

scientific article published on July 2008

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

scientific article published on 18 June 2018

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

article

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome

scientific article

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

scientific article published in August 2006

Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency

scientific article published on September 2010

Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor

scientific article published on 15 July 2005

Persistent risk of adult T-cell leukemia/lymphoma after neonatal HTLV-1 infection through exchange transfusion.

scientific article published on 30 January 2017

Pyogenic bacterial infections in humans with IRAK-4 deficiency

scientific article (publication date: 28 March 2003)

Rectal Lymphogranuloma Venereum in HIV-infected Patients Can Mimic Lymphoma.

scientific article published on 10 July 2015

Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor beta1-deficient patients

scientific article published on June 2004

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

scientific article

Revisiting human primary immunodeficiencies

scientific article published on 09 June 2008

Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies

scientific article published on 25 March 2017

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells

scientific article

The role of interleukin-12 in human infectious diseases: only a faint signature

scientific article

Tuberculosis in children and adults: two distinct genetic diseases

scientific article published on December 2005

Uterine intravascular lymphoma as a cause of fever of unknown origin

scientific article published on 29 August 2017

Variable outcome of experimental interferon-? therapy of disseminated Bacillus Calmette-Guerin infection in two unrelated interleukin-12R?1-deficient Slovakian children

article

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

scientific article

iNKT and memory B-cell alterations in HHV-8 multicentric Castleman disease

scientific article published on 9 November 2016

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