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2 results on '"Mélanie Migaud"'

1. Rosacea as a striking feature in family members with a <scp>STAT</scp> 1 gain‐of‐function mutation

Author

N.H. Segura‐Mendez, Lizbeth Blancas-Galicia, Luz Orozco-Covarrubias, Mélanie Migaud, M.A. Suárez-Gutiérrez, Sara Elva Espinosa-Padilla, Jean-Laurent Casanova, P. O′Farrill‐Romanillos, Marimar Sáez-de-Ocariz, and Anne Puel

Subjects
Genetics, Infectious Diseases, Feature (computer vision), business.industry, Rosacea, Mutation (genetic algorithm), Gain of function mutation, Medicine, Dermatology, business, medicine.disease
Published
2020

2. Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

Author

Leila Parvaneh, Janet Markle, Vincent Barlogis, Jean-Laurent Casanova, Nima Parvaneh, Catherine Farnaria, Jacinta Bustamante, Mélanie Migaud, Caroline Deswarte, Stéphanie Boisson-Dupuis, and Abdolvahab Alborzi

Subjects
Male, 0301 basic medicine, Salmonella, Adolescent, Virulence, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Immunity, medicine, Humans, Child, Gene, Interleukin 12 receptor, beta 1 subunit, Interleukin-12 Subunit p40, business.industry, Il 12p40, Genetic Diseases, Inborn, Immunologic Deficiency Syndromes, Receptors, Interleukin-12, Leishmaniasis, Hematology, medicine.disease, Virology, 030104 developmental biology, Visceral leishmaniasis, Oncology, Pediatrics, Perinatology and Child Health, Immunology, Leishmaniasis, Visceral, Female, business, 030215 immunology
Abstract

Mutations of the IL12B and IL12RB1 genes underlie the development of IL-12 p40 and IL-12Rβ1 deficiencies, respectively, both of which cause predisposition to infection with weakly virulent mycobacteria and Salmonella. Infections with other intramacrophagic organisms have only been rarely observed. We identified two patients with visceral leishmaniasis who had autosomal recessive IL-12 p40 and IL-12Rβ1 deficiencies, respectively. This finding demonstrates the importance of IFN-γ immunity in the control of leishmaniasis. We also searched the literature for similar reports in patients with these and other primary immunodeficiencies.

Published
2016

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