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Publications by Capucine Picard

OL-EDA-ID Syndrome: A Novel Hypomorphic NEMO Mutation Associated With a Severe Clinical Presentation and Transient HLH

Journal of Clinical Immunology
AllergyImmunology
2016English

Fulminant Arterial Vasculitis as an Unusual Complication of Disseminated Staphylococcal Disease Due to the Emerging CC1 Methicillin-Susceptible Staphylococcus Aureus Clone: A Case Report

BMC Infectious Diseases
Infectious Diseases
2019English

Next Generation Phenotyping Using Narrative Reports in a Rare Disease Clinical Data Warehouse

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2018English

Human Adenylate Kinase 2 Deficiency Causes a Profound Hematopoietic Defect Associated With Sensorineural Deafness

Nature Genetics
Genetics
2008English

Munc18-2 Deficiency Causes Familial Hemophagocytic Lymphohistiocytosis Type 5 and Impairs Cytotoxic Granule Exocytosis in Patient NK Cells

Journal of Clinical Investigation
Medicine
2009English

The Transcription Factor RFX Protects MHC Class II Genes Against Epigenetic Silencing by DNA Methylation

Journal of Immunology
AllergyImmunology
2009English
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