List of works - Christine Bodemer

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

scientific article

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

scientific article published on March 2014

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

scientific article published on 10 April 2020

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

scientific article

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

scientific article published on 09 December 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.

scientific article

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

scientific article

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

scientific article published on July 2012

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

scientific article published on 05 July 2016

CEMARA an information system for rare diseases.

scientific article published on January 2010

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

scientific article

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

scientific article published on 01 August 2018

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

scientific article

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

scientific article published on 23 September 2015

Congenital Erosive and Vesicular Dermatosis: A New Case and Review of the Literature ⬇️

scientific article published on December 30, 2011

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

scientific article (publication date: July 2006)

Cutaneous B-cell lymphoblastic lymphoma in children: A rare diagnosis ⬇️

scientific article published on July 13, 2011

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

scientific article

Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis

scientific article published on 20 May 2010

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

scientific article published on 06 June 2020

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

scientific article published on April 2010

Epithelial barrier dysfunction in desmoglein-1 deficiency

scientific article published on 27 April 2018

Family burden in inherited ichthyosis: creation of a specific questionnaire ⬇️

scientific article published on February 15, 2013

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

scientific article

Haemangioma family burden: creation of a specific questionnaire

scientific article published on January 2015

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

scientific article published in 2022

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

scientific article published on August 1, 2013

Incontinentia pigmenti and hypomelanosis of Ito

scientific article published on January 1, 2013

Infantile myofibromatosis: a series of 28 cases

scientific article published on 02 June 2014

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

scientific article published on 12 December 2013

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

scientific article

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

scientific article

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

scientific article

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

scientific article published on 26 February 2017

Mast cell sarcoma: new cases and literature review

scientific article

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

scientific article

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

scientific article

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

scientific article

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

scientific article published on 15 April 2005

Neonatal erythroderma

scientific article published on August 2010

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

scientific article (publication date: February 2002)

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

scientific article published on 26 May 2011

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

scientific article published on 25 March 2016

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

scientific article published in June 2002

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

scientific article

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

scientific article

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

scientific article published on February 2006

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

scientific article

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

scientific article published in June 2004

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

scientific article published on February 2016

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

scientific article published in September 2004

Syndromic (phenotypic) diarrhea in early infancy

scientific article

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

scientific article

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

scientific article

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

scientific article published on 28 August 2017

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.

scientific article published on 25 February 2013

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

scientific article

List of works by Christine Bodemer

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