Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.
Détails
ID Serval
serval:BIB_F76FA6ACDF92
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.
Périodique
Journal of the European Academy of Dermatology and Venereology
ISSN
1468-3083 (Electronic)
ISSN-L
0926-9959
Statut éditorial
Publié
Date de publication
03/2017
Peer-reviewed
Oui
Volume
31
Numéro
3
Pages
e147-e148
Langue
anglais
Notes
Publication types: Case Reports ; Letter
Publication Status: ppublish
Publication Status: ppublish
Mots-clé
DNA/genetics, DNA Mutational Analysis, Dermatitis, Exfoliative/diagnosis, Dermatitis, Exfoliative/etiology, Dermatitis, Exfoliative/immunology, Female, Humans, Immunity, Cellular, Infant, Infant, Newborn, Interleukin-7 Receptor alpha Subunit/genetics, Interleukin-7 Receptor alpha Subunit/metabolism, Mutation, Neonatal Screening/methods, Pedigree, Phenotype, Severe Combined Immunodeficiency/complications, Severe Combined Immunodeficiency/diagnosis, Severe Combined Immunodeficiency/genetics, Whole Exome Sequencing/methods
Pubmed
Web of science
Création de la notice
14/09/2016 9:21
Dernière modification de la notice
20/08/2019 17:23
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