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

J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e147-e148. doi: 10.1111/jdv.13888. Epub 2016 Sep 5.

Authors

L Marquardt¹, M Lacour², M Hoernes¹, L Opitz^{1

3}, R Lecca³, B Volkmer¹, J Reichenbach¹, D Hohl⁴, M Ansari⁵, H Ozsahin⁵, T Güngör⁶, J Pachlopnik Schmid¹

Affiliations

¹ Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
² Paediatric Practice, Carouge, Switzerland.
³ Functional Genomics Center Zurich, Zurich, Switzerland.
⁴ Department of Dermatology, University Hospital of Lausanne, Lausanne, Switzerland.
⁵ Division of Stem Cell Transplantation, University Hospital Geneva, Geneva, Switzerland.
⁶ Division of Stem Cell Transplantation, University Children's Hospital Zurich, Zurich, Switzerland.

PMID: 27593400
DOI: 10.1111/jdv.13888

No abstract available

Publication types

Case Reports
Letter

MeSH terms

DNA / genetics
DNA Mutational Analysis
Dermatitis, Exfoliative / diagnosis*
Dermatitis, Exfoliative / etiology
Dermatitis, Exfoliative / immunology
Exome Sequencing / methods*
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

Substances

IL7R protein, human
Interleukin-7 Receptor alpha Subunit
DNA