cea.13957.pdf (4.43 MB)
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 WainKey Messages
The letter describes a rare familial form of peripheral blood eosinophilia with GI symptoms.
A variant causing a Phe75Leu mutation in CMTM3 is associated with the family's symptoms.
The mutation is predicted to cause destabilisation of the interaction of the protein with membrane lipids.
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
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EnglandLanguage
engPublisher version
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