Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations.
Cancer
EBV
Hemophagocytic lymphohistiocytosis
ITK
Lymphoma
XLP-1
Journal
Clinical immunology (Orlando, Fla.)
ISSN: 1521-7035
Titre abrégé: Clin Immunol
Pays: United States
ID NLM: 100883537
Informations de publication
Date de publication:
01 2019
01 2019
Historique:
received:
07
09
2018
revised:
09
12
2018
accepted:
15
12
2018
pubmed:
21
12
2018
medline:
29
10
2019
entrez:
21
12
2018
Statut:
ppublish
Résumé
The incorporation of next generation sequencing into routine immunological practice has enabled the identification of novel inborn errors of disease, helped define new categories of immune deficiency and extended the clinical spectrum associated with many long-recognised diseases. The family of EBV (Epstein Barr Virus)-sensitive primary immune deficiencies is one such group and in this paper we describe three families: two with X-linked lymphoproliferative disease type-1 (XLP-1) and one with deficiency of Interleukin-2 Inducible T-cell Kinase (ITK). Both diseases have a wide range of clinical manifestations and are united by an exquisite predisposition to EBV, dysgammaglobulinemia, hemophagocytic lymphohistiocytosis, and lymphoma. We detail our approach to diagnosis, treatment, and risk stratification in these diseases where both clinicians and patients must grapple with constant uncertainty.
Identifiants
pubmed: 30572125
pii: S1521-6616(18)30552-7
doi: 10.1016/j.clim.2018.12.016
pii:
doi:
Substances chimiques
Protein-Tyrosine Kinases
EC 2.7.10.1
emt protein-tyrosine kinase
EC 2.7.10.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
39-45Informations de copyright
Copyright © 2018. Published by Elsevier Inc.