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Journal article

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Abstract:

Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lym...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41586-020-2265-1

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Role:
Author
ORCID:
0000-0001-8616-074X
More by this author
Role:
Author
ORCID:
0000-0002-7803-8688
Publisher:
Springer Nature
Journal:
Nature More from this journal
Volume:
583
Pages:
90–95
Place of publication:
England
Publication date:
2020-05-06
Acceptance date:
2020-02-26
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
Pmid:
32499645
Language:
English
Pubs id:
1103348
Local pid:
pubs:1103348
Deposit date:
2020-06-12

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