Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation.
CD4-Positive T-Lymphocytes
/ immunology
CD8-Positive T-Lymphocytes
/ immunology
Cell Proliferation
/ drug effects
Child
Child, Preschool
Female
Humans
Inflammatory Bowel Diseases
/ genetics
Interleukin-2
/ pharmacology
Lymphocyte Activation
/ drug effects
Male
Microfilament Proteins
/ deficiency
Mutation
Virus Diseases
/ genetics
CARMIL2
T cell rescue
activation
primary immune deficiency
proliferation
Journal
Clinical and experimental immunology
ISSN: 1365-2249
Titre abrégé: Clin Exp Immunol
Pays: England
ID NLM: 0057202
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
26
01
2020
revised:
04
03
2020
accepted:
16
03
2020
pubmed:
24
3
2020
medline:
21
10
2020
entrez:
24
3
2020
Statut:
ppublish
Résumé
Capping protein regulator and myosin 1 linker 2 (CARMIL2) deficiency is characterized by impaired T cell activation, which is attributed to defective CD28-mediated co-signaling. Herein, we aimed to analyze the effect of exogenous interleukin (IL)-2 on in-vitro T cell activation and proliferation in a family with CARMIL2 deficiency. This study included four children (one male and three females; aged 2·5-10 years at presentation). The patients presented with inflammatory bowel disease and recurrent viral infections. Genetic analysis revealed a novel homozygous 25-base pairs deletion in CARMIL2. Immunoblotting demonstrated the absence of CARMIL2 protein in all four patients and confirmed the diagnosis of CARMIL2 deficiency. T cells were activated in-vitro with the addition of IL-2 in different concentrations. CD25 and interferon (IFN)-γ levels were measured after 48 h and 5 days of activation. CD25 surface expression on activated CD8
Identifiants
pubmed: 32201938
doi: 10.1111/cei.13432
pmc: PMC7232008
doi:
Substances chimiques
CARMIL1 protein, human
0
IL2 protein, human
0
Interleukin-2
0
Microfilament Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
215-227Informations de copyright
© 2020 British Society for Immunology.
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