Lista de obras -

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2009

From idiopathic infectious diseases to novel primary immunodeficiencies

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

artículo científico publicado en 2005

Gains of glycosylation mutations

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2003

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

artículo científico publicado en 2006

Infections in 252 patients with common variable immunodeficiency

artículo científico publicado en 2008

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

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2017

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Pyogenic bacterial infections in humans with IRAK-4 deficiency

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

Revisiting human primary immunodeficiencies

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2003

Tuberculosis in children and adults: two distinct genetic diseases

artículo científico publicado en 2005

Uterine intravascular lymphoma as a cause of fever of unknown origin

artículo científico

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Lista de obras de

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

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

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

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

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

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

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

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

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

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

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

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

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

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

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

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

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

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

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

From idiopathic infectious diseases to novel primary immunodeficiencies

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Gains of glycosylation mutations

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

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

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

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

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

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

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

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

Infections in 252 patients with common variable immunodeficiency

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

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

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

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

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

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

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

Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection

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

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

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

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

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

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

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

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

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

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

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

Pyogenic bacterial infections in humans with IRAK-4 deficiency

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

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

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

Revisiting human primary immunodeficiencies

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

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

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

Tuberculosis in children and adults: two distinct genetic diseases

Uterine intravascular lymphoma as a cause of fever of unknown origin

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

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

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