Inherited disorders of desmosomes, Australas J Dermatol, vol.46, pp.221-229, 2005. ,
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting, Nat Genet, vol.45, pp.1244-1248, 2013. ,
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies, Br J Dermatol, vol.172, pp.257-261, 2015. ,
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome, Br J Dermatol, vol.174, pp.444-448, 2016. ,
Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation, J Dermatol, vol.43, pp.1201-1204, 2016. ,
Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting), J Eur Acad Dermatol Venereol, vol.31, pp.144-146, 2017. ,
SAM syndrome is characterized by extensive phenotypic heterogeneity, Exp Dermatol, vol.27, pp.787-790, 2018. ,
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin, J Allergy Clin Immunol, vol.136, pp.1268-1276, 2015. ,
The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab, J Am Acad Dermatol, vol.78, pp.498-505, 2018. ,
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome, Hum Mol Genet, vol.25, pp.348-357, 2016. ,
De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease, Swiss Med Wkly, vol.142, p.13670, 2012. ,
Epithelial barrier dysfunction in desmoglein-1 deficiency, J Allergy Clin Immunol, vol.142, pp.702-706, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-02052255
Novel concepts of prevention and treatment of atopic dermatitis through barrier and immune manipulations with implications for the atopic march, J Allergy Clin Immunol, vol.139, pp.1723-1734, 2017. ,
Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome, J Allergy Clin Immunol, vol.139, 2003. ,
Proteomics. Tissue-based map of the human proteome, 1260419. Human Protein Atlas.Available from: www.proteinatlas.org, vol.347, 2015. ,
Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases, J Med Genet, vol.53, pp.289-295, 2016. ,
Template-based protein structure modeling using the RaptorX web server, Nature Protocols, vol.7, pp.1511-1522, 2012. ,
SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information, Nucleic Acids Res, vol.42, pp.252-258, 2014. ,
DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes, Proc Natl Acad Sci, vol.114, pp.1597-1606, 2017. ,
Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia, Int J Cardiol, vol.161, pp.50-52, 2012. ,
A new hypo/oligodontia syndrome: Carvajal/Naxos Advances in dermatology and venereology ,
,
, www.medicaljournals.se/acta syndrome secondary to desmoplakin-dominant mutations, J Dent Res, vol.90, pp.58-64, 2011.
Kelsell DP. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin, J Invest Dermatol, vol.126, pp.1651-1654, 2006. ,
International consensus guidelines for the diagnosis and management of food protein-induced enterocolitis syndrome: executive summary-Workgroup Report of the Adverse Reactions to Foods Committee, Asthma & Immunology. J Allergy Clin Immunol, vol.139, pp.1111-1126, 2017. ,
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly, Nat Genet, vol.45, pp.639-647, 2013. ,
URL : https://hal.archives-ouvertes.fr/inserm-00838073
Neuropathological hallmarks of brain malformations in extreme phenotypes related to DYNC1H1 mutations, J Neuropathol Exp Neurol, vol.76, pp.195-205, 2017. ,
Human papillomavirus (HPV) infection and genotype frequency in the oral mucosa of newborns in, Clin Microbiol Infect, vol.18, pp.197-199, 2012. ,
Cross-sectional study of cytomegalovirus shedding and immunological markers among seropositive children and their mothers, BMC Infect Dis, vol.14, p.568, 2014. ,
Pseudotumour of the tongue caused by herpes simplex virus type 2 in an HIV-1 infected immunosuppressed patient, Br J Dermatol, vol.139, pp.118-121, 1998. ,
Herpes simplex virus type-I and pyogenic granuloma: a vascular endothelial growth factormediated association?, Case Rep Dermatol, vol.5, pp.236-243, 2013. ,
Extragingival pyogenic granuloma, Indian J Dent Res, vol.17, pp.199-202, 2006. ,
Comèl-Netherton syndrome defined as primary immunodeficiency, J Allergy Clin Immunol, vol.124, pp.536-543, 2009. ,
Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome, Pediatr Dermatol, vol.16, pp.19-22, 1999. ,
Retinoids in psoriasis and disorders of keratinization, J Am Acad Dermatol, vol.27, pp.8-14, 1992. ,
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases, Arch Dermatol, vol.147, pp.681-686, 2011. ,
IL-12 protects from psoriasiform skin inflammation, Nat Commun, vol.7, p.13466, 2016. ,