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

Aysenur Bahadir, Şebnem Kader, Alper Han Çebi, Erol Erduran, Mehmet Mutlu, Yakup Aslan

Journal of pediatric hematology/oncology 2022 May 01

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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. Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.

Citation

Aysenur Bahadir, Şebnem Kader, Alper Han Çebi, Erol Erduran, Mehmet Mutlu, Yakup Aslan. Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period. Journal of pediatric hematology/oncology. 2022 May 01;44(4):e866-e868