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Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ
- Source :
- Clinical Immunology. 219:108543
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
-
Abstract
- This study provides evidence for the first time for APDS-1 presenting as MAS/HLH, with evident clinical implications in patient's management and prognosis.
- Subjects :
- 0301 basic medicine
APDS-1
p110δ
business.industry
fungi
Immunology
musculoskeletal system
Activating mutation
03 medical and health sciences
MAS
030104 developmental biology
0302 clinical medicine
P110δ
cardiovascular system
Cancer research
Immunology and Allergy
Medicine
In patient
business
hormones, hormone substitutes, and hormone antagonists
HLH
030215 immunology
Subjects
Details
- ISSN :
- 15216616
- Volume :
- 219
- Database :
- OpenAIRE
- Journal :
- Clinical Immunology
- Accession number :
- edsair.doi.dedup.....2a7a2833c28bdf7bb249f731c2993571
- Full Text :
- https://doi.org/10.1016/j.clim.2020.108543