ArticleJournal of clinical immunology2015
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
Article in Journal of clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- What Works When Treating Granulomatous Disease in Genetically Undefined CVID? A Systematic Review.Frontiers in immunology · 2020Pooled it
- Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients.Journal of human immunity · 2026Article
- Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study.Frontiers in immunology · 2025Article
- Genetically corrected RAG2-SCID human hematopoietic stem cells restore V(D)J-recombinase and rescue lymphoid deficiency.Blood advances · 2024Article
- Interferon autoantibodies as signals of a sick thymus.Frontiers in immunology · 2024Review
- Case report: Identification of a Chinese patient withFrontiers in immunology · 2024Article
- The recombinase activating genes: architects of immune diversity during lymphocyte development.Frontiers in immunology · 2023Review
- B cell abnormalities and autoantibody production in patients with partial RAG deficiency.Frontiers in immunology · 2023Review
- A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis.World journal of pediatrics : WJP · 2022Article
- Spectrum of Disease Manifestations in Patients with Selective Immunoglobulin E Deficiency.Journal of clinical medicine · 2021Article
- RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.European journal of immunology · 2021Review
- Recent advances in elucidating the genetics of common variable immunodeficiency.Genes & diseases · 2020Review
- Histology of Interstitial Lung Disease in Common Variable Immune Deficiency.Frontiers in immunology · 2020Review
- Non-infectious Complications of Common Variable Immunodeficiency: Updated Clinical Spectrum, Sequelae, and Insights to Pathogenesis.Frontiers in immunology · 2020Article
- Predicting the Occurrence of Variants in RAG1 and RAG2.Journal of clinical immunology · 2019Article
- Approaches to patients with variants in RAG genes: from diagnosis to timely treatment.Expert review of clinical immunology · 2019Review
- Differentiation of Common Variable Immunodeficiency From IgG Deficiency.The journal of allergy and clinical immunology. In practice · 2019Article
- Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.Clinical and experimental immunology · 2019Article
- All Patients With Common Variable Immunodeficiency Disorders (CVID) Should Be Routinely Offered Diagnostic Genetic Testing.Frontiers in immunology · 2019Article
- RAG gene defects at the verge of immunodeficiency and immune dysregulation.Immunological reviews · 2019Review
Corrections and comments
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Authors and funding
18 authors at 11 institutions in 1 country.
Funding
Abstract
purposeCombined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of presentation, opportunistic infections, and persistent lymphopenia. Due to the presence of atypical clinical features, next generation sequencing was applied documenting RAG deficiency in both patients.
methodsTwo different genetic analysis techniques were applied in these patients including whole exome sequencing in one patient and the use of a gene panel designed to target genes known to cause primary immunodeficiency disorders (PIDD) in a second patient. Sanger dideoxy sequencing was used to confirm RAG1 mutations in both patients.
resultsTwo young adults with a history of recurrent bacterial sinopulmonary infections, viral infections, and autoimmune disease as well as progressive hypogammaglobulinemia, abnormal antibody responses, lymphopenia and a prior diagnosis of CVID disorder were evaluated. Compound heterozygous mutations in RAG1 (1) c256_257delAA, p86VfsX32 and (2) c1835A>G, pH612R were documented in one patient. Compound heterozygous mutations in RAG1 (1) c.1566G>T, p.W522C and (2) c.2689C>T, p. R897X) were documented in a second patient post-mortem following a fatal opportunistic infection.
conclusionAstute clinical judgment in the evaluation of patients with PIDD is necessary. Atypical clinical findings such as early onset, granulomatous disease, or opportunistic infections should support the consideration of atypical forms of late onset CID secondary to RAG deficiency. Next generation sequencing approaches provide powerful tools in the investigation of these patients and may expedite definitive treatments.
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