Munc13_4 _ UNC13D (C terminus)
- Known as:
- Munc13_4 _ UNC13D (C terminus)
- Catalog number:
- Y213365
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- Munc13_4 _ UNC13D ( terminus)
Related genes to: Munc13_4 _ UNC13D (C terminus)
- Gene:
- UNC13D NIH gene
- Name:
- unc-13 homolog D
- Previous symbol:
- -
- Synonyms:
- Munc13-4
- Chromosome:
- 17q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-10-16
- Date modifiied:
- 2019-04-23
Related products to: Munc13_4 _ UNC13D (C terminus)
Related articles to: Munc13_4 _ UNC13D (C terminus)
- Primary hemophagocytic lymphohistiocytosis is mainly caused by biallelic variants in genes disrupting cytotoxic NK- and T-cell function (PRF1, UNC13D, STX11, STXBP2, RAB27A, and LYST). A "pathway defect accumulation" model proposes that heterozygous variants in multiple FHL genes (digenic or multigenic inheritance) may increase susceptibility, but its significance remains debated. We assessed the prevalence and clinical relevance of di-/multigenic FHL genotypes in a German FHL cohort (1987-2023) and the UK Biobank (UKB, 469,589 participants). We analyzed (i) variants classified as disease mutations in the Human Gene Mutation Database (HGMD), (ii) common variants such as PRF1 p.Ala91Val and p.Asn252Ser as well as (iii) additional variants previously reported in digenic HLH and explored phenotypic associations using ICD-10 codes for possible HLH-related conditions. In the German cohort, among 635 individuals sequenced for more than one FHL gene, no symptomatic patient with abnormal NK/CTL-degranulation carried digenic/multigenic heterozygous variants. In UKB, 575 individuals carried digenic FHL genotypes (0.1% prevalence), without enrichment for HLH-associated phenotypes (OR=0.95; p=1). Four individuals carried trigenic genotypes; none had HLH-related diagnoses. Several HGMD-labeled pathogenic variants were observed biallelically in asymptomatic adults, suggesting potential misclassification. Including PRF1 p.Ala91Val and p.Asn252Ser increased digenic variant carriers to 2,590, but did not cause phenotype enrichment. Digenic heterozygous FHL variants are relatively common in the general population but do not confer increased FHL risk. Many reported pathogenic FHL variants may be benign. These findings argue against classifying multigenic heterozygous carriers as at risk and support integrating population data into variant interpretation. - Source: PubMed
Publication date: 2026/03/31
Borisov OlegMann JasminWalz Kevin KimOyen FlorianLichtenfeld Helena ClaraLehmberg KaiKöttgen AnnaEhl StephanWegehaupt Oliver - Acute myeloid leukemia (AML) is a highly heterogeneous hematologic malignancy, with its pathogenesis closely associated with cellular states at various stages of differentiation. Existing clinical prognostic models often fail to account for this heterogeneity and lack integration of key molecular pathways. This study aimed to characterize AML differentiation-associated heterogeneity at the single-cell level, investigate the role of UNC13D in immune and dedifferentiation states, and develop a prognostic model integrating these features. - Source: PubMed
Publication date: 2026/02/25
Wang ZiqianZhou Daobin - Not available. - Source: PubMed
Publication date: 2026/03/05
Duan YanlongGao HuixiaJin LingYang JingHuang ShuangZhang MengLi NanYang XueliangXu HanliWang Tianyou - Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) syndrome is a central nervous system (CNS) inflammatory disease characterized by contrast-enhanced MRI findings of salt-and-pepper-like lesions predominantly affecting the brainstem and cerebellum. We report two patients with CLIPPERS-like brain MRI findings who carried the same missense variant in one allele along with deleterious variants in the opposite allele. Patient 1, a 23-year-old female, presented at 15 years of age with neurological symptoms and an MRI showing spontaneously resolving, contrast-enhancing lesions in the cerebellum. At age 16, the patient experienced an episode with systemic manifestations followed by recurrent CNS lesions that responded to steroid therapy. At age 22, the patient developed punctate to nodular contrast-enhancing lesions in the brainstem, cerebellum, and cerebrum, findings consistent with CLIPPERS. Patient 2, an 18-year-old female, presented at age 11 with ataxia and dysarthria, and an MRI showing multiple contrast-enhancing lesions in the cerebellum and brainstem, consistent with CLIPPERS MRI findings. Cerebellar biopsy revealed perivascular CD4 T-lymphocyte infiltration, and the patient responded to steroid therapy, leading to an initial diagnosis of CLIPPERS. These patients were suspected of having inborn errors of immunity and were identified to have compound heterozygous variants along with downregulated Munc13-4 protein. Both patients underwent allogeneic hematopoietic cell transplantation, with patient 1 remaining neurologically stable for two years post-transplantation, while patient 2 experienced a post-transplant relapse requiring steroid therapy. These cases highlight that biallelic variants in the gene may cause CNS-predominant inflammation that mimics CLIPPERS. - Source: PubMed
Publication date: 2026/03/04
Sagawa HirotakaHirata KoseiKatayama SaoriShibata HirofumiToyofuku EtsushiKaneko ShuyaKatata YuTakezawa YusukeUematsu MitsuguOnishi IichirohYamazaki YutoHattori TakaakiYamamoto MasahideShimizu MasakiImai KohsukeYasumi TakahiroMorio TomohiroYokota TakanoriSasahara YojiKanegane Hirokazu - Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder involving systemic inflammation and multi-organ damage, which often affects the central nervous system (CNS). Familial HLH, which is caused by mutations in genes such as and , impairs the function of cytotoxic cells, leading to uncontrolled immune activation. CNS involvement occurs in 30% to 73% of cases and manifests as seizures, encephalopathy or status epilepticus, which often mimics other neurologic conditions. This article presents the case of a 28-month-old boy with -related HLH who developed super-refractory status epilepticus during CNS relapse, despite having undergone a prior hematopoietic stem cell transplantation (HSCT). An initial MRI scan revealed diffuse cortical and cerebellar abnormalities, whereas systemic HLH findings emerged later. Treatment included antiseizure medications, immunotherapy and etoposide, but severe neurologic deficits persisted. A review of the literature on 20 pediatric HLH cases presenting with status epilepticus revealed a variety of presentations, including focal, generalized and febrile infection-related epilepsy syndrome (FIRES). Neuroimaging showed white matter lesions, atrophy or diffusion abnormalities, whereas CSF findings ranged from normal to elevated protein and neopterin levels. Mortality was high (45%), with survivors often experiencing cognitive or motor impairments. HLH relapse can initially present with isolated CNS involvement, emphasizing the need for early neuroimaging and cerebrospinal fluid (CSF) analysis in suspected cases. Despite aggressive treatment, outcomes remain poor, highlighting the need for further research into optimal management strategies. - Source: PubMed
Publication date: 2026/02/05
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