Lista de obras -

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

artículo científico publicado en 2003

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

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

artículo científico publicado en 2007

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

artículo científico publicado en 2009

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

artículo científico publicado en 2004

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

artículo científico publicado en 2010

A partial form of recessive STAT1 deficiency in humans

artículo científico publicado en 2009

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

artículo científico publicado en 2008

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

artículo científico publicado en 2011

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

artículo científico publicado en 2017

Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitis

article

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

artículo científico publicado en 2004

BCG-osis and tuberculosis in a child with chronic granulomatous disease

scholarly article by Jacinta Bustamante et al published July 2007 in The Journal of Allergy and Clinical Immunology

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

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency

artículo científico publicado en 2009

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

Hodgkin lymphoma in 2 children with chronic granulomatous disease

artículo científico publicado en 2010

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

artículo científico publicado en 2006

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey

artículo científico publicado en 2011

IRF8 mutations and human dendritic-cell immunodeficiency

artículo científico publicado en 2011

Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

artículo científico publicado en 2013

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection

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

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

artículo científico publicado en 2005

Is Robotic-Assisted Surgery Safe in the Elderly Population? An Analysis of Gynecologic Procedures in Patients ≥ 65 Years Old

scientific article published on 12 November 2018

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

artículo científico publicado en 2003

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

artículo científico publicado en 2015

Mendelian susceptibility to mycobacterial disease in egyptian children

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains.

artículo científico publicado en 2007

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

artículo científico publicado en 2011

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

artículo científico publicado en 2006

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

artículo científico publicado en 2011

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

article by Carolina Prando et al published March 2010 in American Journal of Medical Genetics

Pyogenic bacterial infections in humans with IRAK-4 deficiency

artículo científico publicado en 2003

Recurrent non-typhoidal salmonella bacteremia in a patient with interleukin -12p40 deficiency.

artículo científico publicado en 2004

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

artículo científico publicado en 2010

Robotic Surgery in the Frail Elderly: Analysis of Perioperative Outcomes

scientific article published on 23 April 2020

Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.

artículo científico publicado en 2008

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

artículo científico publicado en 2009

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

artículo científico publicado en 2006

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

artículo científico publicado en 2006

Lista de obras de

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

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

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

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

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

A partial form of recessive STAT1 deficiency in humans

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

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitis

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

BCG-osis and tuberculosis in a child with chronic granulomatous disease

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

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

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

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

Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency

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

Hodgkin lymphoma in 2 children with chronic granulomatous disease

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey

IRF8 mutations and human dendritic-cell immunodeficiency

Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran

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

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection

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

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

Is Robotic-Assisted Surgery Safe in the Elderly Population? An Analysis of Gynecologic Procedures in Patients ≥ 65 Years Old

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

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

Mendelian susceptibility to mycobacterial disease in egyptian children

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

Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains.

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

Pyogenic bacterial infections in humans with IRAK-4 deficiency

Recurrent non-typhoidal salmonella bacteremia in a patient with interleukin -12p40 deficiency.

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

Robotic Surgery in the Frail Elderly: Analysis of Perioperative Outcomes

Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

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