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 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

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

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

artículo científico publicado en 2010

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

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

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.

artículo científico publicado en 2010

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

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

artículo científico publicado en 2006

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

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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 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 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

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

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

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

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]

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

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

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

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

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

Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.

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.

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

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

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

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

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

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