Lista de obras -

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

artículo científico publicado en 2003

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia

artículo científico

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

artículo científico publicado en 2020

Adjuvant treatment with the bacterial lysate (OM-85) improves management of atopic dermatitis: A randomized study

artículo científico publicado en 2017

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

scientific article published on 22 November 2019

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

artículo científico publicado en 2016

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

artículo científico publicado en 2013

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

artículo científico publicado en 2010

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey

artículo científico publicado en 2012

BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

artículo científico publicado en 2016

CEMARA an information system for rare diseases.

artículo científico

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

artículo científico publicado en 2011

Clinical and Therapeutic Aspects of Linear Psoriasis: A Study of 30 Cases

artículo científico publicado en 2018

Clinical spectrum of tufted angiomas in childhood: a report of 13 cases and a review of the literature

artículo científico publicado en 2010

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases

artículo científico

Congenital erosive and vesicular dermatosis: a new case and review of the literature

artículo científico

Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome

artículo científico publicado en 2006

Cutaneous B-cell lymphoblastic lymphoma in children: a rare diagnosis

artículo científico publicado en 2011

Cutaneous EBV-related lymphoproliferative disorder in a 15-year-old boy with AIDS: an unusual clinical presentation

artículo científico publicado en 2002

Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis

artículo científico publicado en 2010

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

artículo científico publicado en 2020

Epidermolysis bullosa in France: management in the National Reference Center for Genodermatosis

artículo científico publicado en 2010

Epithelial barrier dysfunction in desmoglein-1 deficiency

artículo científico publicado en 2018

Family burden in inherited ichthyosis: creation of a specific questionnaire

artículo científico publicado en 2013

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Haemangioma family burden: creation of a specific questionnaire

artículo científico

Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex

artículo científico publicado en 2022

Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study

artículo científico publicado en 2013

Incontinentia pigmenti and hypomelanosis of Ito.

artículo científico publicado en 2013

Infantile myofibromatosis: a series of 28 cases

artículo científico

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

artículo científico

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

artículo científico publicado en 2011

Kaposiform Haemangioendothelioma-spectrum Lesions with Kasabach-Merritt Phenomenon: Retrospective Analysis and Long-term Outcome

artículo científico publicado en 2015

Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

article by Capucine Picard et al published 7 April 2006 in European Journal of Pediatrics

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome

artículo científico publicado en 2003

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

artículo científico publicado en 2017

Mast cell sarcoma: new cases and literature review

artículo científico publicado en 2016

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

artículo científico publicado en 2014

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

artículo científico publicado en 2017

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

artículo científico publicado en 2009

NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

artículo científico publicado en 2005

Neonatal erythroderma

scientific article published on August 2010

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families

artículo científico publicado en 2002

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

artículo científico publicado en 2011

Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.

artículo científico publicado en 2016

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

artículo científico publicado en 2002

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex

artículo científico publicado en 2017

Phenotypic and genotypic characteristics of mastocytosis according to the age of onset

artículo científico publicado en 2008

Presence of chimeric maternally derived keratinocytes in cutaneous inflammatory diseases of children: the example of pityriasis lichenoides.

artículo científico

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

artículo científico publicado en 2010

Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency

artículo científico publicado en 2004

Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings.

artículo científico publicado en 2016

Skin markers of occult spinal dysraphism in children: a review of 54 cases

artículo científico publicado en 2004

Syndromic (phenotypic) diarrhea in early infancy

artículo científico publicado en 2008

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

artículo científico publicado en 2002

Thrombotic microangiopathy and Purtscher-like retinopathy as a rare presentation of juvenile dermatomyositis

artículo científico publicado en 2012

Topical Corticosteroid Concerns Among Parents of Children with Psoriasis versus Atopic Dermatitis: A French Multicenter Cross-Sectional Study.

artículo científico

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

article

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

artículo científico publicado en 2013

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

artículo científico publicado en 2006

Lista de obras de

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

Adjuvant treatment with the bacterial lysate (OM-85) improves management of atopic dermatitis: A randomized study

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey

BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

CEMARA an information system for rare diseases.

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

Clinical and Therapeutic Aspects of Linear Psoriasis: A Study of 30 Cases

Clinical spectrum of tufted angiomas in childhood: a report of 13 cases and a review of the literature

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases

Congenital erosive and vesicular dermatosis: a new case and review of the literature

Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome

Cutaneous B-cell lymphoblastic lymphoma in children: a rare diagnosis

Cutaneous EBV-related lymphoproliferative disorder in a 15-year-old boy with AIDS: an unusual clinical presentation

Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

Epidermolysis bullosa in France: management in the National Reference Center for Genodermatosis

Epithelial barrier dysfunction in desmoglein-1 deficiency

Family burden in inherited ichthyosis: creation of a specific questionnaire

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Haemangioma family burden: creation of a specific questionnaire

Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex

Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study

Incontinentia pigmenti and hypomelanosis of Ito.

Infantile myofibromatosis: a series of 28 cases

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

Kaposiform Haemangioendothelioma-spectrum Lesions with Kasabach-Merritt Phenomenon: Retrospective Analysis and Long-term Outcome

Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

Mast cell sarcoma: new cases and literature review

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

Neonatal erythroderma

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex

Phenotypic and genotypic characteristics of mastocytosis according to the age of onset

Presence of chimeric maternally derived keratinocytes in cutaneous inflammatory diseases of children: the example of pityriasis lichenoides.

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency

Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings.

Skin markers of occult spinal dysraphism in children: a review of 54 cases

Syndromic (phenotypic) diarrhea in early infancy

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

Thrombotic microangiopathy and Purtscher-like retinopathy as a rare presentation of juvenile dermatomyositis

Topical Corticosteroid Concerns Among Parents of Children with Psoriasis versus Atopic Dermatitis: A French Multicenter Cross-Sectional Study.

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production