List of works - Carmen Oleaga-Quintas

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

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

scientific article published on 01 February 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

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

scientific article published on July 2016

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

scientific article published on 03 December 2020

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

scientific article published on 19 December 2018

IRF4 haploinsufficiency in a family with Whipple's disease.

scientific article

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

scientific article

Inherited human IFNγ deficiency underlies mycobacterial disease

scientific article published on 12 March 2020

Inherited p40phox deficiency differs from classic chronic granulomatous disease

scientific article published on 06 August 2018

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

scientific article published on 03 August 2019

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease

scientific article published on 4 March 2018

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

scientific article published on 01 May 2018

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

scientific article published on 25 October 2018

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

scientific article published on 19 February 2020

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.

scientific article

T-cell defects in patients with germline mutations account for combined immunodeficiency

scientific article published on 25 September 2018

List of works by Carmen Oleaga-Quintas

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

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

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

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

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

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

IRF4 haploinsufficiency in a family with Whipple's disease.

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

Inherited human IFNγ deficiency underlies mycobacterial disease

Inherited p40phox deficiency differs from classic chronic granulomatous disease

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.

T-cell defects in patients with germline mutations account for combined immunodeficiency