ReviewJournal of clinical immunology2018
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Review in Journal of clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 48 citations in OpenAlex.
- Persistent Ascites Revealing Mendelian Susceptibility to Mycobacterial Disease Due to IL-12Rβ1 Deficiency: A Case Report and Review of the Literature.Case reports in immunology · 2026Article
- IL-12 drives the differentiation of human T follicular regulatory cells.Science immunology · 2024Article
- Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease.Pathogens (Basel, Switzerland) · 2024Review
- STAT4 Phosphorylation of T-helper Cells predicts surgical outcomes in Refractory Chronic Rhinosinusitis.medRxiv : the preprint server for health sciences · 2023Article
- Adult-onset Mendelian Susceptibility to Mycobacterial Diseases: A case report and systematic literature review.Heliyon · 2023Review
- Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.Cell · 2023Article
- Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.Journal of clinical immunology · 2023Article
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.Science immunology · 2023Article
- Disseminated multidrug-resistant tuberculosis and SARS-CoV-2 co-infection in a child with IL-12Rβ1 deficiency.The Indian journal of tuberculosis · 2023Article
- Fibrosing mediastinitis in a child with Mendelian susceptibility to mycobacterial disease possibly due to Bacillus Calmette-Guérin.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.Journal of clinical immunology · 2022Article
- Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.Journal of clinical immunology · 2022Article
- Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.Indian journal of pediatrics · 2022Article
- Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.Pediatric rheumatology online journal · 2021Review
- Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing.NAR genomics and bioinformatics · 2021Article
- Generalized Pustular Psoriasis in Patients with Interferon Gamma (IFN-γ) Receptor Deficiency and Mycobacterial Infection.Journal of clinical immunology · 2021Article
- Impact of the J Project on progress of primary immunodeficiency care in Ukraine.Central-European journal of immunology · 2021Review
- Disseminated Infectious Disease Caused by Histoplasma capsulatum in an Adult Patient as First Manifestation of Inherited IL-12Rβ1 Deficiency.Journal of clinical immunology · 2020Article
- Late-Onset EBV Susceptibility and Refractory Pure Red Cell Aplasia Revealing DADA2.Journal of clinical immunology · 2020Article
Corrections and comments
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Authors and funding
39 authors at 15 institutions in 7 countries.
Funding
Abstract
purposeInborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Autosomal recessive complete IL-12Rβ1 deficiency is the most frequent genetic etiology of MSMD. Only two of the 84 known mutations are copy number variations (CNVs), identified in two of the 213 IL-12Rβ1-deficient patients and two of the 164 kindreds reported. These two CNVs are large deletions found in the heterozygous or homozygous state. We searched for novel families with IL-12Rβ1 deficiency due to CNVs.
methodsWe studied six MSMD patients from five unrelated kindreds displaying adverse reactions to BCG vaccination. Three of the patients also presented systemic salmonellosis, two had mucocutaneous candidiasis, and one had disseminated histoplasmosis. We searched for CNVs and other variations by IL12RB1-targeted next-generation sequencing (NGS).
resultsWe identified six new IL-12Rβ1-deficient patients with a complete loss of IL-12Rβ1 expression on phytohemagglutinin-activated T cells and/or EBV-transformed B cells. The cells of these patients did not respond to IL-12 and IL-23. Five different CNVs encompassing IL12RB1 (four deletions and one duplication) were identified in these patients by NGS coverage analysis, either in the homozygous state (n = 1) or in trans (n = 4) with a single-nucleotide variation (n = 3) or a small indel (n = 1). Seven of the nine mutations are novel. Interestingly, four of the five CNVs were predicted to be driven by nearby Alu elements, as well as the two previously reported large deletions. The IL12RB1 locus is actually enriched in Alu elements (44.7%), when compared with the rest of the genome (10.5%).
conclusionThe IL12RB1 locus is Alu-enriched and therefore prone to rearrangements at various positions. CNVs should be considered in the genetic diagnosis of IL-12Rβ1 deficiency.
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