Bacillus Calmette-Guérin (BCG)-associated hemophagocytic lymphohistiocytosis in the setting of IFN-γR1 deficiency: A diagnostic dilemma.
Journal
EJHaem
ISSN: 2688-6146
Titre abrégé: EJHaem
Pays: United States
ID NLM: 101761942
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
23
03
2020
revised:
29
03
2020
accepted:
30
03
2020
entrez:
18
7
2022
pubmed:
28
4
2020
medline:
28
4
2020
Statut:
epublish
Résumé
Hemophagocytic lymphohistiocytosis (HLH) disease is a severe immune dysregulation caused by mutations in genes required for lymphocyte cytotoxicity function. However, HLH-like syndrome may develop secondary to infections, malignancy, and autoimmunity. Primary immunodeficiencies (PIDs) could predispose to HLH syndrome after uncontrolled infections. Mendelian susceptibility to mycobacterial disease (MSMD) is a PID characterized by a predisposition to clinical disease caused by weakly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG). Inborn errors of interferon-γ immunity caused by mutations in 16 genes, underly MSMD development. Here, we report a case of fatal interferon-γ receptor 1 deficiency with disseminated BCG infection, which was initially diagnosed with HLH disease. We also include a review of cases reported in the literature.
Identifiants
pubmed: 35847695
doi: 10.1002/jha2.5
pii: JHA25
pmc: PMC9175834
doi:
Types de publication
Case Reports
Langues
eng
Pagination
334-337Informations de copyright
© 2020 The Authors. eJHaem published by British Society for Haematology and John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
The authors declare that there is no conflict of interest.
Références
BMC Infect Dis. 2019 May 9;19(1):399
pubmed: 31072325
J Clin Immunol. 2016 Jul;36(5):420-2
pubmed: 27146670
J Pediatr. 1999 Nov;135(5):640-3
pubmed: 10547254
J Allergy Clin Immunol. 2015 Jun;135(6):1638-41
pubmed: 25592983
Br J Haematol. 2013 Sep;162(5):573-86
pubmed: 23758097
Hum Genet. 2020 Jun;139(6-7):993-1000
pubmed: 32025907
Pediatr Allergy Immunol. 2008 Jun;19(4):303-6
pubmed: 18093084
J Pediatr. 2016 Sep;176:204-6
pubmed: 27301573
Front Pediatr. 2017 May 03;5:75
pubmed: 28516082
J Allergy Clin Immunol. 2019 Jun;143(6):2215-2226.e7
pubmed: 30578871
EJHaem. 2020 Apr 28;1(1):334-337
pubmed: 35847695
Semin Immunol. 2014 Dec;26(6):454-70
pubmed: 25453225
Arthritis Rheumatol. 2020 Feb;72(2):335-347
pubmed: 31400073
Scand J Urol. 2014 Jun;48(3):328-30
pubmed: 24070063
Pediatr Blood Cancer. 2019 Nov;66(11):e27929
pubmed: 31339233
Haematologica. 2015 Jul;100(7):978-88
pubmed: 26022711
Lung India. 2015 Nov-Dec;32(6):593-601
pubmed: 26664166
Front Immunol. 2019 Jan 31;10:55
pubmed: 30766533
J Allergy Clin Immunol. 2016 Jul;138(1):241-248.e3
pubmed: 26936803