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

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

Bahadir, Aysenur; Kader, Sebnem; Çebi, Alper Han; Erduran, Erol; Mutlu, Mehmet; Aslan, Yakup.

Afiliação

Bahadir A; Division of Pediatric Hematology-Oncology, Department of Pediatric Hematology-Oncology.
Kader S; Division of Neonatology, Department of Neonatology.
Çebi AH; Division of Medical Genetics, Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Erduran E; Division of Pediatric Hematology-Oncology, Department of Pediatric Hematology-Oncology.
Mutlu M; Division of Neonatology, Department of Neonatology.
Aslan Y; Division of Neonatology, Department of Neonatology.

J Pediatr Hematol Oncol ; 44(4): e866-e868, 2022 05 01.

Article em En | MEDLINE | ID: mdl-35293882

ABSTRACT

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.

Assuntos

Linfo-Histiocitose Hemofagocítica; Heterozigoto; Homozigoto; Humanos; Recém-Nascido; Linfo-Histiocitose Hemofagocítica/diagnóstico; Linfo-Histiocitose Hemofagocítica/genética; Proteínas de Membrana/genética; Mutação; Fenótipo; Proteínas Qa-SNARE/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfo-Histiocitose Hemofagocítica Tipo de estudo: Diagnostic_studies Limite: Humans / Newborn Idioma: En Revista: J Pediatr Hematol Oncol Ano de publicação: 2022 Tipo de documento: Article

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