Familial hypereosinophilia associated with eosinophilic gastrointestinal symptoms in individuals with a missense mutation in CKLF-like MARVEL transmembrane domain containing 3
journal contribution
posted on 2021-06-17, 13:09 authored by AJ Wardlaw, J Barwell, C Hitchman, N Shrine, N Bennett, AB Adewoye, H Ozturk, T Ntereke, P Wurm, MD Tobin, B Gooptu, EJ Hollox, LV Wain<h3>Key Messages</h3><h3>The letter describes a rare familial form of peripheral blood eosinophilia with GI symptoms.</h3><h3>A variant causing a Phe75Leu mutation in CMTM3 is associated with the family's symptoms.</h3><h3>The mutation is predicted to cause destabilisation of the interaction of the protein with membrane lipids.</h3>
Funding
National Institute for Health Research (NIHR)
Wellcome Trust. Grant Number: WT202849/Z/16/Z
Genetics Society Summer Studentship
Turkish Ministry of National Education
MRC IMPACT Programme Studentship. Grant Number: MR/N024842/1
History
Author affiliation
Department of Respiratory Sciences, University of LeicesterVersion
- AM (Accepted Manuscript)
Published in
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologyPublisher
Wileyissn
0954-7894eissn
1365-2222Acceptance date
2021-05-11Copyright date
2021Available date
2022-05-28Publisher DOI
Spatial coverage
EnglandLanguage
engPublisher version
Usage metrics
Categories
No categories selectedLicence
Exports
RefWorks
BibTeX
Ref. manager
Endnote
DataCite
NLM
DC