Associated Papers
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.
Rafati M et al.
Transplantation and Cellular Therapy, 2024
Functional categorization of gene regulatory variants that cause Mendelian conditions.
Cheng YHH et al.
Human Genetics, 2024
Genetics of Primary Hemophagocytic Lymphohistiocytosis.
Karageorgos S et al.
Advances in Experimental Medicine and Biology, 2024
Genetics of Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis.
Grom AA
Advances in Experimental Medicine and Biology, 2024
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.
Kwon SS et al.
Frontiers in Immunology, 2023
Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome.
Petersen USS et al.
Human Mutation, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.
Park JE et al.
Frontiers in Pediatrics, 2022
Familial hemophagocytic lymphohistiocytosis in a neonate: Case report and literature review.
Yang Y et al.
Medicine, 2021
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.
Bąbol-Pokora K et al.
Archivum Immunologiae Et Therapiae Experimentalis, 2021
Inherited Genetic Susceptibility to Nonimmunosuppressed Epstein-Barr Virus-associated T/NK-cell Lymphoproliferative Diseases in Chinese Patients.
Guan YQ et al.
Current Medical Science, 2021
The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.
Shabrish S et al.
Frontiers in Immunology, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
Familial Hemophagocytic Lymphohistiocytosis Type 3.
Du Y et al.
Indian Journal of Pediatrics, 2020
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.
Viñas-Giménez L et al.
Frontiers in Immunology, 2020
Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.
Galgano D et al.
Frontiers in Immunology, 2020
Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study.
Zhang L et al.
Annals of Hematology, 2019
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
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Chen X et al.
Clinical Genetics, 2018
A Case of Recurrent Pregnancy-Induced Adult Onset Familial Hemophagocytic Lymphohistiocytosis.
Wang LY et al.
World Journal of Oncology, 2018
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Chinn IK et al.
Blood, 2018
Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis.
Schulert GS et al.
Arthritis & Rheumatology (hoboken, N.j.), 2018
Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3.
Hiejima E et al.
Clinical Immunology (orlando, Fla.), 2018
Successful Treatment of Transplantation-associated Atypical Hemolytic Uremic Syndrome With Eculizumab.
Hasegawa D et al.
Journal of Pediatric Hematology/oncology, 2018
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.
Mukda E et al.
International Journal of Hematology, 2017
Natural killer cell biology illuminated by primary immunodeficiency syndromes in humans.
Voss M et al.
Clinical Immunology (orlando, Fla.), 2017
A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.
Hori M et al.
Journal of Clinical Immunology, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
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
First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).
Nakamura L et al.
Blood, 2015
Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party.
Koh KN et al.
European Journal of Haematology, 2015
First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea.
Shin SY et al.
Annals of Laboratory Medicine, 2015
Munc13-4 deficiency with CD5 downregulation on activated CD8+ T cells.
Wada T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.
Cichocki F et al.
The Journal of Experimental Medicine, 2014
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
Qian Y et al.
Pediatric Blood & Cancer, 2014
Insights into the genetic basis of familal hemophagocytic lymphohistiocytosis.
Mittal N et al.
Pediatric Blood & Cancer, 2014
[Flow cytometry in the diagnosis of hemophagocytic lymphohistiocytosis in a case with fatal outcome].
Pállinger E et al.
Orvosi Hetilap, 2014
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
Seo JY et al.
Annals of Hematology, 2013
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Meeths M et al.
Blood, 2011
Molecular basis of familial hemophagocytic lymphohistiocytosis.
Cetica V 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