Pediatric hemophagocytic lymphohistiocytosis. PMID: 32107531
The Immunology of Macrophage Activation Syndrome. PMID: 30774631
UNC13D inhibits STING signaling by attenuating its oligomerization on the endoplasmic reticulum. PMID: 36125406
Primary Immunodeficiencies Associated with EBV Disease. PMID: 26424649
Familial Hemophagocytic Lymphohistiocytosis. PMID: 20301617
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis. PMID: 34339548
UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis. PMID: 32327331
Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3. PMID: 36041693
Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets. PMID: 32582217
Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency. PMID: 30892133
Haploinsufficiency of UNC13D increases the risk of lymphoma. PMID: 30758854
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. PMID: 20015888
UNC13D mutation in a patient with juvenile polymyositis with recurrent macrophage activation syndrome. PMID: 33930104
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms. PMID: 33867526
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis. PMID: 32638196
Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. PMID: 21674762
Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases. PMID: 36401200
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. PMID: 23180437
Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis. PMID: 29409136
Retroviral UNC13D Gene Transfer Restores Cytotoxic Activity of T Cells Derived from Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients In Vitro. PMID: 31032638
Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period. PMID: 35293882
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. PMID: 21931115
UNC13D Deficiency Associated With Epileptic Seizures and Antibody Deficiency: The First Case from the Iranian National Registry. PMID: 31017122
Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review. PMID: 32679608
Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement. PMID: 29312353
Defective UNC13D gene-associated familial hemophagocytic lymphohistiocytosis triggered by visceral leishmaniasis: a diagnostic challenge. PMID: 23774160
Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH. PMID: 29157204
Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects. PMID: 32253931
[Type III familial hemophagocytic lymphohistiocytosis susceptibility gene UNC13D involves in homologous recombination repair]. PMID: 23815924
Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH. PMID: 28270454
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. PMID: 23840885
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. PMID: 16278825
Familial Hemophagocytic Lymphohistiocytosis due to Mutation of UNC13D Gene. PMID: 27408432
Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3. PMID: 29596912
Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. PMID: 25980904
Regulating secretory lysosomes. PMID: 16877763
Genetic predisposition in patients with severe COVID-19. PMID: 36384666
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. PMID: 20823128
Novel mutations in the UNC13D gene carried by a Chinese neonate with hemophagocytic lymphohistiocytosis. PMID: 23709445
A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication. PMID: 26377049
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. PMID: 18710388
A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function. PMID: 21755595
Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3. PMID: 23672263
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. PMID: 17993578
A network of interactions enables CCM3 and STK24 to coordinate UNC13D-driven vesicle exocytosis in neutrophils. PMID: 24176643
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP. PMID: 29665027
A novel homozygous mutation in UNC13D presenting as Epstein-Barr-virus-associated lymphoproliferative disease at 9 years of age. PMID: 27123661
Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report. PMID: 29864493
Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis. PMID: 34868048
Kikuchi-Fujimoto disease complicated with hemophagocytic lymphohistiocytosis. PMID: 36715142
Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D. PMID: 32245292
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. PMID: 24470399
Mutation of FAS, XIAP, and UNC13D genes in a patient with a complex lymphoproliferative phenotype. PMID: 24043286
Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis. PMID: 18240215
Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report. PMID: 29783935
Angeborene hämophagozytische Lymphohistiozytose (HLH). PMID: 20458667
Molecular basis of familial hemophagocytic lymphohistiocytosis. PMID: 20378576
Neonatal Cytomegalovirus Palatal Ulceration and Bocavirus Pneumonitis Associated With a Defect of Lymphocyte Cytotoxicity Caused by Mutations in UNC13D. PMID: 29415165
Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D. PMID: 28848550
Hemophagocytic Lymphohistiocytosis in Children: Pathogenesis and Treatment. PMID: 27242976
Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection. PMID: 24825797
Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma. PMID: 29113160
Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis. PMID: 17420270
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. PMID: 22672194
[Molecular mechanism of granule secretion from platelet]. PMID: 22975767
Hemophagocytic lymphohistiocytosis and related disorders. PMID: 17088644
Hemophagocytic Lymphohistiocytosis Gene Variants in Multisystem Inflammatory Syndrome in Children. PMID: 35336791
Advances in hemophagocytic lymphohistiocytosis: pathogenesis, early diagnosis/differential diagnosis, and treatment. PMID: 21442147
[Research advances in molecular genetics and treatment of familial hemophagocytic lymphohistiocytosis]. PMID: 24229589
Molecular mechanisms regulating secretory organelles and endosomes in neutrophils and their implications for inflammation. PMID: 27558339
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity. PMID: 21990010
Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly. PMID: 35470934
Familial hemophagocytic lymphohistiocytosis in a neonate: Case report and literature review. PMID: 34964741
Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders. PMID: 23810987
Physiological roles of Rab27 effectors in regulated exocytosis. PMID: 17664848
TNF Production in Activated RBL-2H3 Cells Requires Munc13-4. PMID: 31897916
Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management. PMID: 21303357
Tracheal tube fusion in Drosophila involves release of extracellular vesicles from multivesicular bodies. PMID: 35019140
Adult-Onset Familial Hemophagocytic Lymphohistiocytosis Presenting with Annular Erythema following COVID-19 Vaccination. PMID: 36146514
Platelet Munc13-4 regulates hemostasis, thrombosis and airway inflammation. PMID: 29674495
[A case report of adult onset of primary hemophagocytic syndrome with literature review]. PMID: 22781720
[Defect in lytic granule exocytosis: several causes, a same effect]. PMID: 16962048
Unc-13 homolog D mediates an antiviral effect of the chromosome 19 microRNA cluster miR-517a. PMID: 33093239
Munc13 proteins control regulated exocytosis in mast cells. PMID: 29141910
Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals? PMID: 36681659
Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis. PMID: 36589154
Progressive neurologic disorder: Initial manifestation of hemophagocytic lymphohistiocytosis. PMID: 27164702
The occurrence and treatment of hemophagocytic lymphohistiocytosis caused by multiple factors: a case report and literature review. PMID: 33849134
Familial haemophagocytosis lymphohisticytosis type 3: A case report. PMID: 27914778
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