Universität zu Köln

Ettinger, M., Schreml, J., Wirsching, K., Berneburg, M. and Schreml, S. (2018). Skin signs of primary immunodeficiencies: how to find the genes to check. Br. J. Dermatol., 178 (2). S. 335 - 350. HOBOKEN: WILEY. ISSN 1365-2133

Full text not available from this repository.

Abstract

Primary immunodeficiencies (PIDs) are a heterogeneous group of rare diseases that result from defects in immune system development and/or function. The clinical manifestations of PIDs are highly variable, but most disorders involve at least an increased susceptibility to infection. Furthermore, cutaneous manifestations are very common in PIDs. As an easily accessible organ, the skin can be crucial for early diagnosis and treatment. This is relevant for preventing significant disease-associated morbidity and mortality. We provide a table that enables the reader to find the possible diseases and corresponding gene defects based on the skin manifestations of the suspected PIDs. To our knowledge, this is the first review that allows the reader to find relevant PIDs and the respective gene defects through solitary or combined skin signs. What's already known about this topic? Primary immunodeficiencies (PIDs) comprise more than 300 distinct entities. About half of these PIDs have skin signs. What does this study add? This review provides the reader with a framework on when and how to check for specific PIDs based on solitary or combined cutaneous signs. Plain language summary available online

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ettinger, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schreml, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wirsching, K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Berneburg, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schreml, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-196382
DOI:	10.1111/bjd.15870
Journal or Publication Title:	Br. J. Dermatol.
Volume:	178
Number:	2
Page Range:	S. 335 - 350
Date:	2018
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1365-2133
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GRISCELLI-SYNDROME TYPE-2; UPDATE; MANIFESTATIONS; DEFICIENCY; CLASSIFICATION; MUTATIONS; DISEASES Multiple languages Dermatology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/19638