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, cilt.44, sa.4, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44 Sayı: 4
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1097/mph.0000000000002449
  • Dergi Adı: Journal of pediatric hematology/oncology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE
  • Anahtar Kelimeler: hemophagocytic lymphohistiocytosis, neonatal, UNC13D, STX11
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.