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A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

artículo científico publicado en 2019

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

scientific article published on 01 November 2018

Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient

scientific article published on 28 September 2018

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

scholarly article published in Journal of Clinical Immunology

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

artículo científico publicado en 2012

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

artículo científico publicado en 2013

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

artículo científico publicado en 2015

The human gene damage index as a gene-level approach to prioritizing exome variants

artículo científico publicado en 2015

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

artículo científico publicado en 2022

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