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.

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Serval ID
serval:BIB_F76FA6ACDF92
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
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.
Journal
Journal of the European Academy of Dermatology and Venereology
Author(s)
Marquardt L., Lacour M., Hoernes M., Opitz L., Lecca R., Volkmer B., Reichenbach J., Hohl D., Ansari M., Ozsahin H., Güngör T., Pachlopnik Schmid J.
ISSN
1468-3083 (Electronic)
ISSN-L
0926-9959
Publication state
Published
Issued date
03/2017
Peer-reviewed
Oui
Volume
31
Number
3
Pages
e147-e148
Language
english
Notes
Publication types: Case Reports ; Letter
Publication Status: ppublish
Keywords
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
OAI-PMH
oai:serval.unil.ch:BIB_F76FA6ACDF92
DOI
10.1111/jdv.13888
Pubmed
27593400
Web of science
000397572500007
Create date
14/09/2016 9:21
Last modification date
20/08/2019 17:23
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