Ask about this productRelated genes to: DCLRE1C antibody
- Gene:
- DCLRE1C NIH gene
- Name:
- DNA cross-link repair 1C
- Previous symbol:
- SCIDA
- Synonyms:
- ARTEMIS, FLJ11360, SNM1C, A-SCID
- Chromosome:
- 10p13
- Locus Type:
- gene with protein product
- Date approved:
- 2002-01-18
- Date modifiied:
- 2019-04-23
Related products to: DCLRE1C antibody
Related articles to: DCLRE1C antibody
- Severe combined immunodeficiency (SCID) can be detected at birth through T-cell receptor excision circles (TREC) analysis in dried blood spots. This study summarizes the results of the consolidated SCID newborn screening (NBS) program in Catalonia (Spain) during the first seven years of program implementation (2017-2023). - Source: PubMed
Publication date: 2026/04/16
Argudo-Ramírez AnaMartín-Nalda AndreaLaguna JavierRiviere Jacques GGonzález de Aledo-Castillo José ManuelLópez-Galera Rosa MColobran RogerBatlle-Masó LauraQuintero YaniaMartínez CarmenParedes-Fuentes Abraham JPerurena-Prieto JanireAlonso LauraPrats-Viedma BlancaGarcía-Villoria JuditSoler-Palacín Pere - Allogeneic haematopoietic stem cell transplantation (HSCT) is a curative therapy for severe combined immunodeficiency (SCID). Conditioning improves donor engraftment and freedom from immunoglobulin replacement (IgR) but increases the risks of acute and late toxicity. Treosulfan, a reduced toxicity alkylating agent, has emerged as an alternative to busulfan. In this UK multicentre study, we evaluated outcomes of 104 infants with SCID who underwent first HSCT following treosulfan-fludarabine conditioning between 2006 and 2022. After a median follow-up of 5.4 years, 5-year overall survival (OS) and event-free survivals (EFS) were 81% and 77% respectively. On multivariate analysis, molecularly undefined SCID (OS hazard ratio [HR] 5.61; EFS HR 5.55) and pre-HSCT cytomegalovirus (CMV) infection (OS HR 3.94; EFS 3.68) were independently associated with inferior OS and EFS; RAG-DCLRE1C genotypes also predicted worse EFS (HR 4.35). Cumulative incidence of endothelial cell dysfunction (ECD) was 11%. Treosulfan dose was not associated with OS, EFS, ECD or donor myeloid chimerism. Low mixed donor myeloid chimerism was observed across all treosulfan doses, but IgR freedom was achieved in 92% of survivors after first HSCT. Treosulfan-fludarabine provides excellent survival with low endothelial toxicity for SCID HSCT, with potential for optimisation via pharmacokinetic guided dosing. - Source: PubMed
Publication date: 2026/04/10
Lum Su HanGreener SinéadMemon Irum LatifAmrolia PersisNademi ZohrehChiesa RobertSilva JulianaYoung HelenOwens StephenWilliams EleriNg Khuen FoongFlood TerryGennery Andrew RHambleton SophieRao KanchanSlatter Mary - Inborn errors of immunity (IEIs) represent a heterogeneous group of genetic conditions that predispose individuals to severe infections, autoimmunity, and malignancy. This study aimed to characterize the clinical, radiological, and genetic profiles of pediatric patients with IEIs at a single tertiary-care hospital in southwestern Saudi Arabia. - Source: PubMed
Publication date: 2026/03/31
Asseri Ali AlsuheelAlshehri Amer AliAljari Adhwaa AhmedAsiri Ashwag AliAl Mani Haneen AbdullahBinobaiad Layan Mohammed - Hypomorphic variants impair T and B cell development, leading to combined immunodeficiency (CID) or leaky severe combined immunodeficiency (SCID). Current treatment options, such as allogeneic hematopoietic stem cell transplantation (aHSCT), are associated with significant risks, highlighting the need for alternative therapeutic strategies. In this study, we report the first a proof-of-concept CRISPR-Cas9–mediated correction of a hypomorphic variant (c.194 C > T; p.T65I) in CD4 + helper T (Th) cells using CRISPR-Cas9 gene-editing technology. CD4 + Th cells were isolated, and the variant region was edited with sgRNA and donor DNA. Gene editing efficiency was confirmed by Sanger sequencing, revealing successful restoration of the target region to its wild-type sequence. Functional analyses showed a significant increase in CD25 activation and Artemis protein expression post-editing, although mRNA levels remained unchanged. The approximately 6–8% increase in CD25 expression was statistically significant but did not reach healthy control levels. These findings suggest that CRISPR-Cas9 –mediated gene editing may enable precise correction and induce measurable cellular-level functional changes, supporting biological feasibility rather than therapeutic efficacy. This study provides a foundation for future research on HSCs and underscores the potential role of CRISPR-Cas9–based approaches in the treatment of inborn errors of immunity (IEIs) associated with variants. - Source: PubMed
Publication date: 2026/02/28
Duran TugceKaraselek Mehmet AliDagdelen BurakKuccukturk SerkanGuner Sükrü NailKeles SevgiReisli Ismail - Non-homologous end joining (NHEJ) is the primary pathway for repairing G1 phase-induced DNA double-strand breaks (DSBs) during immunoglobulin heavy chain (Igh) class switch recombination (CSR) in B lymphocytes. In B cells lacking NHEJ (XRCC4) or DSB end protection (SHLD1), end joining during CSR proceeds through an alternative end-joining pathway. Polymerase theta (Pol θ) is widely regarded as a mediator of this pathway, essential for repairing replication-associated DSBs during mitosis when homologous recombination is unavailable. In this study, we examined CSR in primary B cells lacking XRCC4, SHLD1, and/or Pol θ, revealing two repair pathways: Pol θ-independent productive switching and Pol θ-dependent unproductive switching characterized by end resection, inversion and microhomology. Furthermore, we show that Pol θ-mediated repair under NHEJ-deficiency coincides with G1-to-S phase transition and occurs independently of RHINO and PLK1. Thus, in the absence of NHEJ, Pol θ repairs persistent G1-phase DSBs during S-phase rather than mitosis. - Source: PubMed
Publication date: 2025/11/26
Marton TimeaWang JinglongVaysse AmauryYu WeiCommere Pierre-HenriHolleville QuentinEspie-Caullet TristanFrock RichardDeriano Ludovic