Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations
- 10 June 2019
- journal article
- letter
- Published by Elsevier BV in Clinical Immunology
- Vol. 208, 108228
- https://doi.org/10.1016/j.clim.2019.06.004
Abstract
No abstract availableKeywords
Funding Information
- Albert-Ludwigs-Universität Freiburg
- Bundesministerium für Bildung und Forschung (01EO1303)
This publication has 13 references indexed in Scilit:
- Epstein-Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency DisordersFrontiers in Immunology, 2018
- Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined ImmunodeficiencyFrontiers in Immunology, 2018
- Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case reportJournal of Dermatological Case Reports, 2017
- A human immunodeficiency syndrome caused by mutations in CARMIL2Nature Communications, 2017
- Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutationsThe Journal of Experimental Medicine, 2016
- The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cellsThe Journal of Experimental Medicine, 2016
- A potential founder variant inCARMIL2/RLTPRin three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunctionMolecular Genetics & Genomic Medicine, 2016
- TREM2-mediated early microglial response limits diffusion and toxicity of amyloid plaquesThe Journal of Experimental Medicine, 2016
- Capping protein regulators fine-tune actin assembly dynamicsNature Reviews Molecular Cell Biology, 2014
- Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis BullosaThe New England Journal of Medicine, 2010