ArticleHuman molecular genetics2015
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 95 citations in OpenAlex.
- Vitiligo like depigmentation in a patient with NHEJ1 deficiency related radiosensitive SCID: A case report.JAAD case reports · 2026Article
- Abnormal immunoglobulin expression and B-cell follicle organization in inborn errors of immunity/primary immunodeficiency.Virchows Archiv : an international journal of pathology · 2026Article
- Base editing of Artemis mutations ex vivo sheds light on gene therapy for Artemis-deficient SCID.Advanced biotechnology · 2026Article
- Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants inJournal of human immunity · 2026Article
- CRISPR-Cas9-based gene editing as a proof-of-concept approach in an inborn error of immunity caused by a DCLRE1C variant.Immunologic research · 2026Article
- ICF syndrome: An epigenetic paradigm for primary immunodeficiencies.Journal of human immunity · 2026Review
- Case report: Maternal engraftment of T-cells in a patient with Severe Combined Immunodeficiency due toFrontiers in immunology · 2026Article
- Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy.Frontiers in immunology · 2026Review
- Artemis (DCLRE1C) Acts as a Target to Enhance Radiotherapy Response in Triple-Negative Breast Cancer.Cancers · 2025Article
- Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis.Clinical rheumatology · 2025Article
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case.Case reports in immunology · 2025Article
- Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity.Immunological reviews · 2024Review
- Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.Molecular biology reports · 2024Article
- DNA Damage Responses, the Trump Card of Stem Cells in the Survival Game.Advances in experimental medicine and biology · 2024Review
- Analysis of complement system and its related factors in Alzheimer's disease.BMC neurology · 2023Article
- A Clinical Conundrum with Diagnostic and Therapeutic Challenge: a Tale of Two Disorders in One Case.Journal of clinical immunology · 2023Article
- Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.Genes and immunity · 2023Article
- Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2023Article
- A novel splice donor mutation inFrontiers in oncology · 2023Article
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Authors and funding
26 authors at 10 institutions in 6 countries.
Funding
Abstract
Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease-all with severely impaired T-cell immunity. By whole-exome sequencing, we investigated the molecular defect in a consanguineous family with three children clinically diagnosed with antibody deficiency. We identified perfectly segregating homozygous variants in DCLRE1C in three index patients with recurrent respiratory tract infections, very low B-cell numbers and serum IgA levels. In patients, decreased colony survival after irradiation, impaired proliferative response and reduced counts of naïve T cells were observed in addition to a restricted T-cell receptor repertoire, increased palindromic nucleotides in the complementarity determining regions 3 and long stretches of microhomology at switch junctions. Defective V(D)J recombination was complemented by wild-type ARTEMIS protein in vitro. Subsequently, homozygous or compound heterozygous DCLRE1C mutations were identified in nine patients from the same geographic region. We demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. This novel association broadens the clinical spectrum associated with ARTEMIS mutations. Clinicians should consider the possibility that an immunodeficiency with a clinically mild initial presentation could be a combined immunodeficiency, so as to provide appropriate care for affected patients.
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