Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life
J Clin Immunol
.
2024 Sep 23;45(1):14.
doi: 10.1007/s10875-024-01804-8.
Authors
Salim Bougarn
#
1
,
Andrea Guennoun
#
2
,
Taushif Khan
2
3
,
Rafah Mackeh
2
,
Mehdi Adeli
#
4
5
,
Nico Marr
#
6
7
Affiliations
1
Department of Human Immunology, Sidra Medicine, Doha, Qatar.
[email protected]
.
2
Department of Human Immunology, Sidra Medicine, Doha, Qatar.
3
The Jackson Laboratory, Farmington, CT, 06032, USA.
4
Department of Pediatrics, Sidra Medicine, Doha, Qatar.
5
Weill Cornell Medicine-Qatar, Doha, Qatar.
6
Department of Human Immunology, Sidra Medicine, Doha, Qatar.
[email protected]
.
7
College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
[email protected]
.
#
Contributed equally.
PMID:
39312089
PMCID:
PMC11420255
DOI:
10.1007/s10875-024-01804-8
No abstract available
Publication types
Letter
Case Reports
MeSH terms
Female
Humans
Infant
Male
Mutation* / genetics
Recurrence
Respiratory Tract Infections* / genetics
Toll-Like Receptor 3* / genetics
Substances
Toll-Like Receptor 3
TLR3 protein, human
Grants and funding
NPRP9-251-3-045/Qatar National Research Fund
NPRP9-251-3-045/Qatar National Research Fund
NPRP9-251-3-045/Qatar National Research Fund
NPRP9-251-3-045/Qatar National Research Fund
NPRP9-251-3-045/Qatar National Research Fund
NPRP9-251-3-045/Qatar National Research Fund