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) identifier identifier identifier

  • 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.