Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.

Bahadir, AYŞENUR; Kader, ŞEBNEM; Çebi, ALPER; Erduran, Erol; Mutlu, Mehmet; Aslan, Yakup

doi:10.1097/mph.0000000000002449

Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.

Bahadir A., Kader Ş., Çebi A. H., Erduran E., Mutlu M., Aslan Y.

Journal of pediatric hematology/oncology, vol.44, no.4, 2022 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 44 Issue: 4
Publication Date: 2022
Doi Number: 10.1097/mph.0000000000002449
Journal Name: Journal of pediatric hematology/oncology
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE
Keywords: hemophagocytic lymphohistiocytosis, neonatal, UNC13D, STX11
Karadeniz Technical University Affiliated: Yes

Abstract

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.