Associated Papers
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
Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals?
Zhou Z et al.
Asian Pacific Journal of Allergy and Immunology, 2022
Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement.
Giardino G et al.
Frontiers in Immunology, 2017
A novel homozygous mutation in UNC13D presenting as Epstein-Barr-virus-associated lymphoproliferative disease at 9 years of age.
Bienemann K et al.
Leukemia & Lymphoma, 2016
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.
Cetica V et al.
The Journal of Allergy and Clinical Immunology, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Presentation of hemophagocytic lymphohistiocytosis due to a novel MUNC 13-4 mutation masked by partial therapeutic immunosuppression.
Garrett JP et al.
Pediatric Rheumatology Online Journal, 2012
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E et al.
Journal of Medical Genetics, 2011
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.
Yoon HS et al.
Haematologica, 2010
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
Santoro A et al.
Haematologica, 2008
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.
Santoro A et al.
Journal of Medical Genetics, 2006
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.
Marcenaro S et al.
Blood, 2006
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