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Title:

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Maccari, Maria Elena; Wolkewitz, Martin; Schwab, Charlotte; Lorenzini, Tiziana; Leiding, Jennifer W.; Aladjdi, Nathalie; Abolhassani, Hassan; Abou-Chahla, Wadih; Aiuti, Alessandro; Azarnoush, Saba; Baris, Safa; Barlogis, Vincent; Barzaghi, Federica; Baumann, Ulrich; Bloomfield, Marketa; Bohynikova, Nadezda; Bodet, Damien; Boutboul, David; Bucciol, Giorgia; Buckland, Matthew S.; Burns, Siobhan O.; Cancrini, Caterina; Cath, Pascal; Cavazzana, Marina; Cheminant, Morgane; Chinello, Matteo; Ciznar, P...     »
Abstract:
BACKGROUND: Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking. OBJECTIVES: This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease;...     »
Journal title abbreviation:
J Allergy Clin Immunol
Year:
2023
Journal volume:
152
Journal issue:
4
Pages contribution:
984-996.e10
Fulltext / DOI:
doi:10.1016/j.jaci.2023.06.015
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37390899
Print-ISSN:
0091-6749
TUM Institution:
611; Lehrstuhl für Medizinische Informatik (Prof. Boeker)
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