Associated Papers
A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis.
Brik Simon D et al.
Genes, 2025
41300767 (PubMed )
Supplement: genes-16-01315-s001.zip › genes-3861651-supplementary.pdf
Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.
Xiong L et al.
Frontiers in Immunology, 2025
Functional role of UNC13D in immune diseases and its therapeutic applications.
Duong VT et al.
Frontiers in Immunology, 2024
Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Bahadir A et al.
Journal of Pediatric Hematology/oncology, 2022
Retroviral UNC13D Gene Transfer Restores Cytotoxic Activity of T Cells Derived from Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients In Vitro.
Dettmer V et al.
Human Gene Therapy, 2019
UNC13D Deficiency Associated With Epileptic Seizures and Antibody Deficiency: The First Case from the Iranian National Registry.
Yazdani R et al.
Journal of Investigational Allergology & Clinical Immunology, 2019
Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
Shibata H et al.
Blood, 2018
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E et al.
Journal of Medical Genetics, 2011
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Zur Stadt U et al.
Human Mutation, 2006
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