UNC13D Peptide
- Known as:
- UNC13D Peptide
- Catalog number:
- 46-552p
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- UNC13D Peptide
Related genes to: UNC13D Peptide
- 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: UNC13D Peptide
Related articles to: UNC13D Peptide
- Germline predisposition gene mutations may influence outcomes in patients undergoing hematopoietic stem cell transplantation (HSCT). - Source: PubMed
Publication date: 2026/07/28
Li ZhihuiYang KeyanZhang CaiyanWang XianxuanWang LeiLi JingWen XiaopeiFei QianZhai JiahongZhou YanMing ZongyangSong YanzhiZhao YongqiangWu TongZheng Qinlong - The gene encodes Munc13-4, a critical regulator of cytotoxic granule exocytosis in lymphocytes and the protein responsible for familial hemophagocytic lymphohistiocytosis (FHL). As an essential mediator of perforin release from cytotoxic T and NK cells, Munc13-4 ensures immune surveillance by facilitating granule-plasma membrane fusion. Defects in this pathway, termed "perforinopathy" manifest as impaired cytotoxicity and consequent immune dysregulation. While central nervous system involvement and systemic inflammation are established features of Munc13-4 deficiency, its association with autoimmune neuropathy remains largely unrecognized. - Source: PubMed
Publication date: 2026/07/20
Wei XiaojingHu JianianBao LiyeSun HuiBai NaYu XuefanLin Jie - Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition that results from a severe inflammation caused by an exaggerated immune response. HLH may have a genetic cause affecting the proper function of cytotoxic immune cells or it canbe linked to other pathological settings including inborn errors of immunity, malignancies, autoinflammatory and autoimmune syndromes, metabolic diseases, or acquired immunodeficiencies. HLH due to a genetic error remains difficult to diagnose because anormal Natural Killer (NK) or cytotoxic T lymphocyte (CTL) function does not necessarily exclude a familial form of HLH affecting immune cells other than cytotoxic lymphocytes, or because patients with autoimmune or autoinflammatory syndromes can also fulfill the HLH criteria. In consequence, sensitive functional assays and assessment of the expression of proteins involved in lytic-granules exocytosis may be useful approaches for discriminating between familial forms of HLH from those where a genetic cause is not affecting cytotoxic cell function, or from acquired forms of HLH. - Source: PubMed
Publication date: 2026/07/03
Gutiérrez-Guerrero ArturoLugo-Reyes Saul OLópez-Rivera Daniela OliviaSánchez-Herrera JacquelineValenzuela-Vázquez LuceroEstevez-Mieres MercyNuñez Nuñez Maria EnriquetaBayardo-Gutiérrez BeatrizLona-Reyes Juan CarlosCruz-Osorio Rosa MargaritaSoto-Chavez VeronicaBedolla-Barajas MartínGutierrez-Hernández José AlonsoBarragan-Arevalo TaniaHidalgo-Martinez Maria FernandaGomez-Cardenas LilianaSierra-Muñoz DiegoPerea Alvarez SamanthaVenegas-Montoya EdnaStaines-Boone Aide TamaraZarate-Hernández Maria Del CarmenMiranda-Saavedra Vania MariaArce-Estrada Gabriel EmmanuelScheffler-Mendoza SelmaBustamante-Ogando Juan CarlosLlamas-Guillén Beatriz AdrianaRuiz-Fernández MiguelReynoso-Arenas Perla VeronicaFlores-Munguía Martín EduardoTorres-Lozano CarlosBonal-Pérez Miguel AngelMamani-Velásquez Estefany GracielaMartínez-Barricarte RubénRamírez-Uribe Rosa María NideshdaPastor NinaMartinez-Duncker IvanGaytan PaulYañez Jorge AYamazaki-Nakashimada Marco AntonioLenoir ChristelleLatour SylvainEspinosa Sara ElvaCruz-Munoz Mario Ernesto - Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome. The familial form (fHL), associated with specific genetic alterations, typically manifests in childhood, while secondary forms arise due to triggers such as malignancies or infections. We present the rare case of adult-onset fHL in a 30-year-old female concurrent with T-cell large granular lymphocytic leukemia (T-LGL). After presenting with symptoms of HLH, a bone marrow biopsy revealed T-cell lymphoma, leading to CHOEP treatment. This diagnosis was later revised to T-LGL, prompting a switch to methotrexate for T-LGL treatment. Further genetic testing uncovered an unexpected homozygous missense mutation in UNC13D (p.R414C), associated with fHL type 3. A detailed family history revealed a consanguineous marriage between her parents, which likely increased the risk of the homozygous mutation. Additionally, it was discovered that the patient's sister had undergone allogeneic stem cell transplantation during childhood for an unspecified lymphoproliferative disorder, with the patient herself serving as the donor. This case highlights the rare occurrence of adult-onset fHL, triggered by the evolution of T-LGL as a possible contributing factor. It underscores the importance of early diagnosis and illustrates how familial history and persistent symptoms can necessitate genetic testing. - Source: PubMed
Publication date: 2026/07/15
Dierks FriederikePaulsen Finn-OleLehmberg KaiRosenwald AndreasBokemeyer CarstenWeisel KatjaSeidel Christoph - Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by genetic defects in cytotoxic lymphocyte function. Current therapies can control disease activity, but transplantation of allogeneic hematopoietic stem and progenitor cells (HSPCs) remains the only curative option and is associated with substantial risks. These limitations have accelerated development of genome editing approaches enabling precise correction of disease-causing mutations in autologous cells. Familial HLH (FHL) represents a compelling target for genome editing, but successful and safe clinical translation has remained challenging. Preclinical studies demonstrate that targeted editing of key genes, such as and , can restore cytotoxic function in HSPCs and T cells. Translation to the clinic, however, depends on multiple factors, including the choice of target cell population, the level of functional correction required, and gene-specific constraints such as locus complexity and regulation of gene expression. In this review, we synthesize current progress in genome editing for FHL and highlight critical biological and technical barriers to clinical implementation. We propose a conceptual framework for designing genome editing strategies tailored to FHL, emphasizing the alignment of editing platform, gene architecture, and cellular context to enable effective and clinically translatable therapies. - Source: PubMed
Publication date: 2026/07/02
Minaiyan GhazaleAussel ClotildeAmmann SandraCathomen Toni