C. Prando

发表

High‐Performance Liquid Chromatography Under Partially Denaturing Conditions (dHPLC) is a Fast and Cost‐Effective Method for Screening Molecular Defects: Four Novel Mutations Found in X‐Linked Chronic Granulomatous Disease

J. A. Lopez, L. A. Pedroza, A. Condino-Neto, 2012, Scandinavian journal of immunology.

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

Y. Itan, R. Rosati, Aayushee Jain, 2020, Frontiers in Genetics.

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

J. Casanova, C. Picard, F. Ailal, 2016, The Journal of allergy and clinical immunology.

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

J. Casanova, P. Newburger, C. Deswarte, 2015, The Journal of allergy and clinical immunology.

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

J. Casanova, L. Abel, A. Puel, 2010, Human molecular genetics.

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Mark S. Anderson, Chun Jimmie Ye, Gabriela K. Fragiadakis, 2022, Science immunology.

Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes.

J. Casanova, P. Newburger, J. Bustamante, 2008, Blood.

Inherited IL-12p40 Deficiency: Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds (vol 92, pg 109, 2013)

Sami Al-Hajjar, C. Picard, L. Abel, 2013 .

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

Mark S. Anderson, J. Casanova, L. Rowen, 2022, Research square.

Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry

L. Bezrodnik, L. Santos‐Argumedo, J. Bustamante, 2015, Pediatric blood & cancer.

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio

G. Pesole, J. Casanova, J. Fellay, 2021, The Journal of investigative dermatology.

Deep dermatophytosis and inherited CARD9 deficiency.

R. Hay, J. Casanova, C. Picard, 2013, The New England journal of medicine.

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

J. Casanova, P. Newburger, C. Picard, 2011, Nature Immunology.

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio

G. Pesole, J. Casanova, J. Fellay, 2021, The Journal of investigative dermatology.

Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

V. Pascual, D. Chaussabel, J. Casanova, 2012, Nature Immunology.

Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant

J. Casanova, C. Picard, N. Mahlaoui, 2013, Case reports in immunology.

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN‐γ receptor 1 deficiency

J. Casanova, L. Abel, S. Lyonnet, 2010, American journal of medical genetics. Part A.

Comment on “Impaired Priming and Activation of the Neutrophil NADPH Oxidase in Patients with IRAK4 or NEMO Deficiency”

J. Casanova, P. Newburger, P. Errante, 2009, The Journal of Immunology.

A novel form of human STAT1 deficiency impairing early but not late responses to interferons.

Sami Al-Hajjar, D. Chaussabel, J. Casanova, 2010, Blood.

Human genetic and immunological determinants of critical COVID-19 pneumonia

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature.

Inherited IL-12p40 Deficiency

Sami Al-Hajjar, J. Casanova, C. Picard, 2013, Medicine.

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

J. Casanova, J. Fellay, S. Constantinescu, 2021, Nature Immunology.

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

J. Casanova, G. Giardino, C. Pignata, 2023, The Journal of experimental medicine.

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

D. Chaussabel, J. Casanova, C. Picard, 2017, Cell.

Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Journal of Clinical Immunology.

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Mark S. Anderson, J. Casanova, J. Fellay, 2022, Journal of Allergy and Clinical Immunology.

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio

G. Pesole, J. Casanova, J. Fellay, 2021, The Journal of investigative dermatology.

HUMAN INVASIVE DERMATOPHYTIC DISEASE IS CAUSED BY INBORN ERRORS OF CARD9

J. Casanova, C. Picard, G. Lefranc, 2012 .

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Laura E. Covill, P. Gregersen, J. Casanova, 2022, The Journal of experimental medicine.