Lista de obras -

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

A genome-wide case-only test for the detection of digenic inheritance in human exomes

artículo científico publicado en 2020

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

artículo científico publicado en 2020

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

artículo científico publicado en 2016

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

scientific article published on 08 May 2019

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

artículo científico publicado en 2018

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

scientific article published on 05 December 2019

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

scientific article published on 03 December 2020

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years

artículo científico publicado en 2021

IRF4 haploinsufficiency in a family with Whipple's disease.

artículo científico publicado en 2018

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

artículo científico

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

artículo científico publicado en 2021

Inherited human IFNγ deficiency underlies mycobacterial disease

artículo científico publicado en 2020

New insights into human immunity from ancient genomics

artículo científico publicado en 2021

Severe influenza pneumonitis in children with inherited TLR3 deficiency

scientific article published on 19 June 2019

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Lista de obras de

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

A genome-wide case-only test for the detection of digenic inheritance in human exomes

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years

IRF4 haploinsufficiency in a family with Whipple's disease.

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Inherited human IFNγ deficiency underlies mycobacterial disease

New insights into human immunity from ancient genomics

Severe influenza pneumonitis in children with inherited TLR3 deficiency

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant