Présentation
I became interested in immunology during my studies of Biochemistry in the University of Chile. Indeed, during my undergraduate thesis, I investigated the imprinting of tissue-specific homing potential on T cells by dendritic cells. Then, in 2005 I moved to the Curie Institute in Paris, to perform my PhD in Immunology under the supervision of Bénédicte Manoury. During this period, I studied the role of endosomal proteases in the regulation of intracellular TLRs activity. In 2010 I came to the Necker Hospital for my postdoctoral training where my main focus of interest was to determine the contribution of impaired cytotoxic activity of lymphocytes in the pathogenesis of Hemophagocytic Lymphohistiocytic syndrome (also known as Macrophage activation syndrome – HLH/MAS) in Geneviève de Sanit Basile's lab. In 2016, I was recruited by the French CNRS. Since 2010, my work has greatly contribute to characterize the role of cytotoxic lymphocytes to the regulation of the immune response, and to understand the genetic, molecular and cellular basis underlying different forms of HLH/MAS. My current research projects aim to characterize the pathophysiological mechanisms underlying severe primary immune disorders, with particular emphasis in HLH/MAS, as well as actin-related PIDs.
Ressources & publications
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form ...
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Journal (source)J. Exp. Med.
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
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Journal (source)Nat. Med.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 a...
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Journal (source)Sci Immunol
Chronic mucocutaneous candidiasis and connective tissue disorder in humans wi...
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Journal (source)Open Forum Infect Dis
Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Geno...
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Journal (source)Nat. Med.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 a...
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Journal (source)Front Genet
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form ...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by nega...
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Journal (source)J. Exp. Med.
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reacti...
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Journal (source)J. Exp. Med.
Severe influenza pneumonitis in children with inherited TLR3 deficiency.
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Journal (source)J. Exp. Med.
Inherited IL-18BP deficiency in human fulminant viral hepatitis.
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Journal (source)Curr. Opin. Immunol.
Human inborn errors of immunity to infection affecting cells other than leuko...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Blacklisting variants common in private cohorts but not in public databases o...
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Journal (source)Sci Immunol
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous...
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Journal (source)Sci Immunol
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.
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Journal (source)J. Clin. Invest.
Rescue of recurrent deep intronic mutation underlying cell type-dependent qua...
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Journal (source)Hum. Mol. Genet.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by ...
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Journal (source)J. Exp. Med.
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficie...
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Journal (source)Nat. Immunol.
Disruption of an antimycobacterial circuit between dendritic and helper T cel...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Incomplete penetrance for isolated congenital asplenia in humans with mutatio...
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Journal (source)J. Exp. Med.
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to...
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Journal (source)Sci Immunol
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT...
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Journal (source)J. Clin. Immunol.
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacte...
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Journal (source)J. Clin. Invest.
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
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Journal (source)Cell
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
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Journal (source)Am. J. Med. Genet. A
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate...
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Journal (source)J. Am. Coll. Cardiol.
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.
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Journal (source)J. Allergy Clin. Immunol.
Exome and genome sequencing for inborn errors of immunity.
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Journal (source)Elife
IRF4 haploinsufficiency in a family with Whipple's disease.
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Common homozygosity for predicted loss-of-function variants reveals both redu...
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Journal (source)J. Pediatr.
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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Journal (source)Nat Genet
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn...
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Journal (source)J Exp Med
Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever...
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Journal (source)Nat Genet
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and...
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Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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Journal (source)J Allergy Clin Immunol
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr...
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Journal (source)J Pediatr
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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Journal (source)Nat Med
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
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Journal (source)Med (N Y)
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst...
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Journal (source)Nature
Human genetic and immunological determinants of critical COVID-19 pneumonia.
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Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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Journal (source)J Allergy Clin Immunol
Epithelial barrier dysfunction in desmoglein-1 deficiency.
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Journal (source)J Exp Med
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...