A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13
J Clin Immunol
.
2025 Apr 21;45(1):87.
doi: 10.1007/s10875-025-01881-3.
Authors
Saira Tabassum
1
,
Sarah Grün
2
3
,
Ben Molloy
4
,
Eppie Jones
4
,
Patrick G Buckley
4
,
Rebecca Amet
5
,
Anthony M McElligott
5
,
Derek G Doherty
6
,
Stephan Ehl
2
,
Timothy Ronan Leahy
7
8
Affiliations
1
Department of Paediatric Immunology, Children's Health Ireland at Crumlin, Dublin, Ireland.
2
Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.
3
Faculty of Biology, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
4
Genuity Science (Ireland), Cherrywood Business Park, Building 4, Dublin, Ireland.
5
John Durkan Leukaemia Laboratories, Trinity College, Dublin, Ireland.
6
Discipline of Immunology, Trinity Translational Medicine Institute, Trinity College, Dublin, Ireland.
7
Department of Paediatric Immunology, Children's Health Ireland at Crumlin, Dublin, Ireland. leahyt@tcd.ie.
8
Discipline of Paediatrics, School of Medicine, Trinity College, Dublin, Ireland. leahyt@tcd.ie.
PMID:
40257485
PMCID:
PMC12011885
DOI:
10.1007/s10875-025-01881-3
No abstract available
Keywords:
Immunodeficiency; MAPK1; Noonan syndrome 13; Ras-ERK; mTOR.