Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Journal
Journal of pediatric hematology/oncology
ISSN: 1536-3678
Titre abrégé: J Pediatr Hematol Oncol
Pays: United States
ID NLM: 9505928
Informations de publication
Date de publication:
01 05 2022
01 05 2022
Historique:
received:
19
10
2021
accepted:
18
02
2022
pubmed:
17
3
2022
medline:
26
4
2022
entrez:
16
3
2022
Statut:
ppublish
Résumé
Patients with primary hemophagocytic lymphohistiocytosis may present with different mutations and phenotypic findings. It is usually presented as case reports because of its rare occurrence. Here, we discuss a case diagnosed with familial hemophagocytic lymphohistiocytosis 3, that presented in the neonatal period and was detected to have homozygous UNC13D and heterozygous STX11 mutations.
Identifiants
pubmed: 35293882
doi: 10.1097/MPH.0000000000002449
pii: 00043426-202205000-00022
doi:
Substances chimiques
Membrane Proteins
0
Qa-SNARE Proteins
0
STX11 protein, human
0
UNC13D protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e866-e868Informations de copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Ishii E. Hemophagocytic lymphohistiocytosis in children: pathogenesis and treatment. Front Pediatr. 2016;4:47.
Henter JI, Horne A, Aricó M, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124–131.
Risma KA, Marsh RA. Hemophagocytic lymphohistiocytosis: clinical presentations and diagnosis. J Allergy Clin Immunol Pract. 2019;7:824–832.
Brisse E, Wouters CH, Matthys P. Advances in the pathogenesis of primary and secondary haemophagocytic lymphohistiocytosis: differences and similarities. Br J Haematol. 2016;174:203–217.
Giri PP, Biswas N, Chakravarty S. Familial hemophagocytic lymphohistiocytosis due to mutation of UNC13D gene. Indian J Hematol Blood Transfus. 2016;32(suppl 1):S344–S346.
Hu X, Liu D, Jiang X, et al. Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report. BMC Med Genet. 2018;19:82.
Entesarian M, Chiang SC, Schlums H, et al. Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3. Br J Haematol. 2013;162:415–418.