Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.
Autoinflammation
Inborn error in immunity
Interleukin-1
Myocarditis
T-lymphocytes
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
15 Mar 2024
15 Mar 2024
Historique:
received:
15
12
2023
accepted:
04
03
2024
medline:
18
3
2024
pubmed:
15
3
2024
entrez:
15
3
2024
Statut:
epublish
Résumé
Myocarditis can be caused by viral infection, drug reaction or general inflammatory condition. To provide understanding on inflammatory myocarditis, we describe clinical, genetic, and immunological properties of a young male patient who suffered from recurrent myocarditis episodes since the age of four years. Electrocardiography, troponin I/T, echocardiography, myocardial magnetic resonance imaging and histological findings were consistent with recurrent myocarditis episodes. Homozygous c.245 A > G p.Tyr82Cys pathogenic variant in Hepatitis A Virus Cellular Receptor 2 (HAVCR2) gene encoding T cell immunoglobulin and mucin domain-containing protein 3 (TIM-3) receptor was found. Peripheral blood mononuclear cells were collected when the patient was asymptomatic; CD4
Identifiants
pubmed: 38485795
doi: 10.1007/s10875-024-01685-x
pii: 10.1007/s10875-024-01685-x
pmc: PMC10940375
doi:
Substances chimiques
Hepatitis A Virus Cellular Receptor 2
0
Interleukin 1 Receptor Antagonist Protein
0
Interleukin-1beta
0
HAVCR2 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
81Informations de copyright
© 2024. The Author(s).
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