Ask about this productRelated genes to: DCLRE1C Blocking Peptide
- 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 Blocking Peptide
Related articles to: DCLRE1C Blocking Peptide
- Severe combined immune deficiency (SCID) is a rare inherited defect of lymphocytes causing life-threatening opportunistic infections in early infancy. Data on SCID from China are limited. This study explores the clinical, immunologic, and genetic features of a SCID cohort from Yunnan Province in China and reports novel variants. We collated clinical, laboratory, and molecular details from patients with a clinical profile suggestive of SCID. Trio-based whole-exome sequencing was performed to identify genetic variants. For the 9 previously reported variants identified in our cohort, we systematically reviewed the literature for additional cases carrying the same variants and compared clinical and immunologic features. Eleven infant patients (8 males and 3 females) were included. Molecular diagnoses were obtained in 10 patients, as follows: IL2RG (3), RAG2 (3), LIG4 (2), DCLRE1C (1), and CD3D (1). Nine patients presented with classic SCID features within the first 3 months of life. Eleven variants were identified: 2 novel RAG2 variants (p.L469P and p.Q492R) and 9 variants previously reported in SCID-associated genes. One patient with the p.Q492R variant exhibited a relatively milder clinical course. An extremely rare case of Omenn syndrome due to IL2RG deficiency was also observed. Ten of 11 patients died within 6 months of age. The literature review identified 94 additional cases carrying these same variants; clinical presentations were generally consistent with our patients, although some variability was observed. We characterized the clinical and genetic profiles of 11 SCID patients from Yunnan, China, identifying two novel RAG2 variants. While these findings expand the mutational spectrum in understudied populations, the high mortality and diagnostic delays observed here underscore the critical need for universal newborn screening in China. Further functional studies are required to confirm the impact of the identified variants. - Source: PubMed
Publication date: 2026/05/28
Wang YanjunJin RuohongHan QianHang LingLv LingChen GuizhiHu RongXiao Shufang - A subgroup of patients with severe combined immunodeficiencies (SCID) has disease-causing variants in genes involved in nonhomologous end-joining (NHEJ) repair of DNA double-strand breaks (DSBs). The most common variants among these patients are in the gene coding for the Artemis protein, which makes up 2-3% of all SCID. Patients with Artemis deficiency are radiosensitive (RS) and are referred to as RS-SCID. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment. Due to defects in NHEJ repair, modified protocols are used for HSCT conditioning, resulting in poor engraftment (post-transplantation) in some patients. We describe the clinical and molecular findings in two siblings with a compound heterozygous variant in DCLRE1C. We previously reported functional radiosensitivity in their T cells using a novel cell division assay (CDA). Here, we applied the CDA and the novel DSB repair assay to assess T cell function after HSCT. Posttransplant T cells showed reduced radiosensitivity and a DNA repair efficiency comparable to controls. Donor engraftment was low in myeloid cells but exceeded 95% in lymphocytes. Both patients had low lymphocyte counts after HSCT, but clinical symptoms improved. The assays presented here are useful for investigating the pathology of new variants in the DSB repair pathway and monitoring outcomes after HSCT. - Source: PubMed
Publication date: 2026/02/20
Lyytikäinen AnnaShamshirgaran YasamanHjerpe HedvigCajander SaraWahren Borgström EmilieGharaghani ShaghayeghErikson ElinaVonlanthen SofieMarits PerHammarsten OlaSmith C I EdvardFasth AndersJohansson Pegah - 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