Associated Papers
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R et al.
The Journal of Experimental Medicine, 2023
Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients.
Moundir A et al.
Journal of Clinical Immunology, 2023
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Kolukisa B et al.
Allergy, 2022
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Bosa L et al.
Scientific Reports, 2021
A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.
Yonkof JR et al.
Frontiers in Immunology, 2020
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
Kurolap A et al.
Journal of Clinical Immunology, 2019
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.
Alazami AM et al.
Frontiers in Immunology, 2018
CARMIL family proteins as multidomain regulators of actin-based motility.
Stark BC et al.
Molecular Biology of the Cell, 2017
The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells.
Roncagalli R et al.
The Journal of Experimental Medicine, 2016
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
Wang Y et al.
The Journal of Experimental Medicine, 2016
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