List of works - Ludovic de Beaucoudrey

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 partial form of recessive STAT1 deficiency in humans

scientific article

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

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

scientific article published on 14 May 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.

scientific article

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

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

scientific article published on 24 February 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

scientific article

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

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

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

scientific article published on 10 August 2005

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

scientific article published on 17 February 2005

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

scientific article

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

scientific article published on July 2008

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

scientific article published in July 2007

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

scientific article

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

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

List of works by Ludovic de Beaucoudrey

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