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

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.