Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity

Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ

(2017) Otavio Cabral-Marques et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

The Ensembl gene annotation system

(2016) Bronwen L. Aken et al.   Database-The Journal of Biological Databases and Curation

Coinfection with tuberculosis and paracoccidioidomycosis in French Guiana: a common misdiagnosis

(2015) Romain Guery et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency

(2015) Francesca Conti et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

(2015) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Synchronous Oral Paracoccidioidomycosis and Pulmonary Tuberculosis in an Immunocompetent Patient

(2015) Ana Carolina Amorim Pellicioli et al.   MYCOPATHOLOGIA

Macrophage Interaction with Paracoccidioides brasiliensis Yeast Cells Modulates Fungal Metabolism and Generates a Response to Oxidative Stress

(2015) Juliana Alves Parente-Rocha et al.   PLoS One

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

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

(2014) Otavio Cabral-Marques et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Whole-Genome Sequencing IdentifiesSTAT4as a Putative Susceptibility Gene in Classic Kaposi Sarcoma

(2014) Mervi Aavikko et al.   JOURNAL OF INFECTIOUS DISEASES

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency

(2013) Monia Ouederni et al.   CLINICAL INFECTIOUS DISEASES

Interferon Alpha Treatment of Patients with Impaired Interferon Gamma Signaling

(2013) H. I. Bax et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Innate Defects of the IL-12/IFN-γ Axis in Susceptibility to Infections by Mycobacteria and Salmonella

(2013) Noé Ramirez-Alejo et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

Paracoccidioides brasiliensis lipids modulate macrophage activity via Toll-dependent or independent mechanisms

(2012) Flávio V. Loures et al.   FEMS IMMUNOLOGY AND MEDICAL MICROBIOLOGY

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

(2012) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

Interleukin-12 Receptor  1 Deficiency Predisposing to Disseminated Coccidioidomycosis

(2011) D. C. Vinh et al.   CLINICAL INFECTIOUS DISEASES

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

(2011) Ithaisa Sologuren et al.   HUMAN MOLECULAR GENETICS

Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis

(2011) Otavio Cabral Marques et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients

(2011) Otavio Cabral-Marques et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Clinical Disease Caused by Klebsiella in 2 Unrelated Patients With Interleukin 12 Receptor  1 Deficiency

(2010) S. Pedraza et al.   PEDIATRICS

Refractory Disseminated Coccidioidomycosis and Mycobacteriosis in Interferon‐γ Receptor 1 Deficiency

(2009) Donald C. Vinh et al.   CLINICAL INFECTIOUS DISEASES

Paracoccidioidomycosis

(2009) Marcelo Simão Ferreira   Paediatric Respiratory Reviews

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

(2008) Jacinta Bustamante et al.   CURRENT OPINION IN IMMUNOLOGY

Oral paracoccidioidomycosis and pulmonary tuberculosis co-infection: relevance of oral biopsy in establishing the diagnosis and therapeutic approach

(2008) Cassius Torres-Pereira et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

Deficiency of IL-12p40 subunit determines severe paracoccidioidomycosis in mice

(2008) Márcia Cristina Livonesi et al.   MEDICAL MYCOLOGY