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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 17.06.2021, 13:09 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

Key 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 Leicester

Version

AM (Accepted Manuscript)

Published in

Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology

Publisher

Wiley

issn

0954-7894

eissn

1365-2222

Acceptance date

11/05/2021

Copyright date

2021

Available date

28/05/2022

Spatial coverage

England

Language

eng