The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.
Alleles
Biomarkers
Child
Child, Preschool
Combined Modality Therapy
Computational Biology
/ methods
Databases, Genetic
Disease Management
Disease Susceptibility
/ immunology
Female
Genetic Predisposition to Disease
Humans
India
Infant
Lymphohistiocytosis, Hemophagocytic
/ diagnosis
Male
Mutation
Perforin
/ genetics
Phenotype
T-Lymphocyte Subsets
/ immunology
Treatment Outcome
HLH-targeted therapy
NGS
degranulation
familial hemophagocytic lymphohistocytosis
flow cytomertry
perforin
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2021
2021
Historique:
received:
30
09
2020
accepted:
04
02
2021
entrez:
22
3
2021
pubmed:
23
3
2021
medline:
30
6
2021
Statut:
epublish
Résumé
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when associated with mutations in
Identifiants
pubmed: 33746956
doi: 10.3389/fimmu.2021.612583
pmc: PMC7973116
doi:
Substances chimiques
Biomarkers
0
Perforin
126465-35-8
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
612583Informations de copyright
Copyright © 2021 Shabrish, Kelkar, Yadav, Bargir, Gupta, Dalvi, Aluri, Kulkarni, Shinde, Sawant-Desai, Kambli, Hule, Setia, Jodhawat, Gaikwad, Dhawale, Nambiar, Gowri, Pandrowala, Taur, Raj, Uppuluri, Sharma, Kini, Sivasankaran, Munirathnam, Vedam, Vignesh, Banday, Rawat, Aggarwal, Poddar, Girish, Chaudhary, Sampagar, Jayaraman, Chaudhary, Shah, Jijina, Chandrakla, Kanakia, Arora, Sen, Lokeshwar, Desai and Madkaikar.
Déclaration de conflit d'intérêts
RV was employed by the company Medgenome, Pvt. Labs, Bangalore, India. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
J Med Genet. 2008 Jan;45(1):15-21
pubmed: 17873118
Hum Mutat. 2006 Jan;27(1):62-8
pubmed: 16278825
Blood. 2002 Jan 1;99(1):61-6
pubmed: 11756153
Haematologica. 2010 Apr;95(4):622-6
pubmed: 20015888
Blood. 2002 Sep 15;100(6):2266-7
pubmed: 12229880
Science. 1999 Dec 3;286(5446):1957-9
pubmed: 10583959
Clin Exp Immunol. 2014 Jun;176(3):394-400
pubmed: 24611904
Crit Rev Oncol Hematol. 2005 Mar;53(3):209-23
pubmed: 15718147
Br J Haematol. 2018 Jul;182(2):185-199
pubmed: 29767843
Blood. 2012 Mar 22;119(12):2754-63
pubmed: 22294731
Genome Med. 2015 Dec 18;7:130
pubmed: 26684649
Front Immunol. 2014 Apr 16;5:167
pubmed: 24795715
Blood. 2015 Oct 8;126(15):1858-60
pubmed: 26450956
Haematologica. 2010 Dec;95(12):2080-7
pubmed: 20823128
J Pediatr Hematol Oncol. 2017 Mar;39(2):143-146
pubmed: 27271812
J Paediatr Child Health. 2005 Mar;41(3):136-9
pubmed: 15790325
J Pediatr Hematol Oncol. 2014 Nov;36(8):e524-7
pubmed: 24390453
Blood. 2015 Mar 5;125(10):1566-77
pubmed: 25564401
Cytometry B Clin Cytom. 2017 Jan;92(1):33-41
pubmed: 27718327
J Immunol Res. 2016;2016:3769590
pubmed: 27413758
J Clin Immunol. 2017 Nov;37(8):770-780
pubmed: 28936583
Blood Adv. 2019 Jan 8;3(1):47-50
pubmed: 30617216
PLoS One. 2012;7(9):e44649
pubmed: 22970278
Blood. 2011 Nov 24;118(22):5794-8
pubmed: 21881043
Leukemia. 1996 Feb;10(2):197-203
pubmed: 8637226
Blood. 2013 Feb 21;121(8):1345-56
pubmed: 23287865
Pediatr Blood Cancer. 2014 Jun;61(6):1034-40
pubmed: 24470399
Blood. 2017 Jun 1;129(22):2993-2999
pubmed: 28270454
J Clin Immunol. 2017 Jan;37(1):92-99
pubmed: 27896523
Am J Hum Genet. 1999 Jan;64(1):165-71
pubmed: 9915955
Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9809-14
pubmed: 19487666
Clin Exp Immunol. 2011 Mar;163(3):271-83
pubmed: 21303357
Br J Haematol. 2013 Aug;162(3):415-8
pubmed: 23672263
Cytometry B Clin Cytom. 2014 Jul;86(4):263-71
pubmed: 24616127
Hematology Am Soc Hematol Educ Program. 2009;:127-31
pubmed: 20008190
J Med Genet. 2011 May;48(5):343-52
pubmed: 21248318
J Med Genet. 2004 Feb;41(2):137-44
pubmed: 14757862
Annu Rev Med. 2012;63:233-46
pubmed: 22248322
Pediatr Transplant. 2018 Feb;22(1):
pubmed: 29239076
J Allergy Clin Immunol. 2016 Jan;137(1):188-196.e4
pubmed: 26342526
Neurol Sci. 2011 Jun;32(3):473-7
pubmed: 21234777
Front Immunol. 2019 Jul 23;10:1740
pubmed: 31396234
Front Immunol. 2019 Jun 11;10:1248
pubmed: 31244832
Blood. 2014 Aug 21;124(8):1331-4
pubmed: 24916509