ArticleImmunogenetics2021
Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease.
Article in Immunogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 5 citations in OpenAlex.
- Base editing of Artemis mutations ex vivo sheds light on gene therapy for Artemis-deficient SCID.Advanced biotechnology · 2026Article
- Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy.Frontiers in immunology · 2026Review
- An atypical adolescent case of leukocyte adhesion deficiency I caused by a novel ITGB2 splicing variant with successful immune reconstitution following hematopoietic stem cell transplantation.Clinical and experimental immunology · 2025Article
- An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.Journal of clinical immunology · 2023Article
- Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.Immunogenetics · 2023Article
- A novel splice donor mutation inFrontiers in oncology · 2023Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Artemis (DCLRE1C) is involved in opening recombination-activating gene (RAG1/RAG2)-generated hairpins during V(D)J recombination, an essential process for the differentiation and maturation of T and B cells. Here, we reported a case of 5-month-old boy with recurrent respiratory infections, disseminated Bacille Calmette-Guérin (BCG) infection, generalized erythroderma, hepatosplenomegaly, lymphadenopathy, eosinophillia and failure to thrive, symptoms often observed in Omenn syndrome. Genetic analysis revealed compound heterozygous mutations of the DCLRE1C gene, including deletions of exons 1 and 2, and a c. 352G>T (p. G118X) nonsense mutation in exon 5. Flow cytometry analysis of the patient PBMCs indicated a T
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