Ask about this productRelated genes to: IL12 antibody
- Gene:
- IL12RB1 NIH gene
- Name:
- interleukin 12 receptor subunit beta 1
- Previous symbol:
- IL12RB
- Synonyms:
- CD212
- Chromosome:
- 19p13.11
- Locus Type:
- gene with protein product
- Date approved:
- 1995-09-14
- Date modifiied:
- 2019-04-23
Related products to: IL12 antibody
Related articles to: IL12 antibody
- Mendelian susceptibility to mycobacterial disease (MSMD), caused by IL12RB1 or IL12B mutations, typically presents with intra-cellular infections such as BCG-adenitis or Salmonella. Rarely, patients with IL12RB1/IL12B defects can exhibit cutaneous manifestations such as Henoch-Schonlein purpura (HSP). This study aimed to evaluate such vasculitic manifestations in genetically confirmed cases with MSMD in India and review the literature for similar associations. We included nine patients with genetically proven MSMD presenting with features of HSP-like small vessel vasculitis from pediatric immunology clinics across three tertiary care centers in India. Clinical, laboratory, histopathological, and genetic data were recorded using a structured proforma. Skin biopsy findings, IgA levels, renal involvement, and infection history were analyzed. Additionally, a literature review was performed using PubMed, Scopus, and Google Scholar databases to identify similar reported cases. In our cohort, eight patients had IL12RB1 defect, and one had IL12B defect. All had maculopapular purpuric rash in lower limbs, predominantly in the anterior aspect of legs and posterior thighs resembling the rash of HSP. Leukocytoclastic vasculitis was observed in 77.7% patients (n = 7), with two out of five had IgA deposits in dermo-epidermal junction. Concurrent infections due to Salmonella sp. and Pandorea apista were documented in 44.4% (n = 4) and 22.2% (n = 2), respectively. Treatment focused on antimicrobial therapy led to clinical improvement. The HSP-like vasculitic rash usually occurred in setting of underlying bacterial infections in patients with particularly IL12RB1/IL12B defects. These skin lesions can also be considered as one of the potential clinical clues for underlying IL12RB/IL12B defects. - Source: PubMed
Sharma YaminiNadig PallaviDas JhumkiIyengar VaishnaviLoganathan Sathish KumarChougule AkshayaGowri VijayaTaur PrasadPilania RakeshDhaliwal ManpreetSharma SaniyaChatterjee DebajyotiSuri DeeptiDesai MukeshSingh SurjitVignesh PandiarajanRawat Amit - encodes a pivotal component of the IL-23/Th17 signaling axis and represents a validated genetic susceptibility locus for inflammatory bowel disease (IBD), psoriasis, and ankylosing spondylitis. Despite extensive GWAS data, the functional consequences of the full spectrum of missense single-nucleotide variants (SNVs) have not been systematically characterized. This study aimed to identify high-risk missense SNVs through a multi-tool in silico pipeline. - Source: PubMed
Publication date: 2026/06/16
Altintas Kazar Gamze - TB meningitis (TBM) has up to 50% mortality in people living with HIV. We investigated differences in cerebrospinal fluid (CSF) host immune responses associated with short-term mortality. - Source: PubMed
Publication date: 2026/06/18
Louine MartineauDandekar RaviReddy Sumanth PKaralius Mary CWaldrop GreerWang ShiyinGakuru JaneKimuda SarahMugabi TimothyMusubire Abdu KKagimu EnockAbassi MahsaKabahubya MableWilliams Darlisha APhan Hoang VanDai BiyueZia MahamZorn Kelsey CFouassier CamilleGerungan ChloeMarra Pedro SSkipper Caleb PBahr Nathan CLangelier Charles RCreswell Fiona VBoulware David RMeya David BWilson Michael R - Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome characterized by increased and selective susceptibility to weakly virulent mycobacteria and other intramacrophagic pathogens. This study emphasizes the utility of immunological and functional assays in diagnosing MSMD by analyzing clinical, immunological, and genetic features in 50 Indian patients. Immunological workup included lymphocyte subset analysis, nitroblue tetrazolium test (NBT), and flow cytometric assessment of IFN-γR1 (CD119), IL-12Rβ1 (CD212), and phosphorylated STAT1/STAT4 following cytokine stimulation. Functional assays measured IFN-γ and IL-12p70 production. Genetic evaluation was performed using whole-exome or Sanger sequencing. The median age at onset was 3 mo. BCG complications were the most common presentation (96%), while 4% had non-tuberculous mycobacterial infections. Additional infections included , spp., spp., and multiple types of viruses. IL-12Rβ1 deficiency was the most frequent diagnosis, with 10 novel variants in the gene identified. These results demonstrate that combining flow cytometry with functional and genetic analyses enables accurate and timely MSMD diagnosis. - Source: PubMed
Publication date: 2025/12/18
Dalvi AparnaTemkar LavinaDesai MukeshGarg SwatiAluri JahnaviHule GouriBargir Umair AhmedSetia PriyankaKambli PriyankaDhawale AmrutaTamhankar ParagYadav Reetika MalikBhattad SagarSivasankaran MeenaLashkari Harsha PrasadKacha AsrutiBharathi T KasiKanakia SwatiGandhi Kamana ArunShelar ShraddhaShinde ShwetaJodhawat NehaKawale RameshSalve NitinCasanova Jean-LaurentBustamante JacintaMadkaikar Manisha R - Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by increased susceptibility to infections caused by weakly virulent mycobacteria (such as nontuberculous mycobacteria (NTM) or the Bacillus Calmette–Guérin (BCG) vaccine) in otherwise healthy individuals. In this study, we described a 29-year-old patient with MSMD due to NTM infection identified using metagenomic next-generation sequencing (mNGS) testing. The patient showed a poor response to standard antimycobacterial treatment. Therefore, we performed whole-exome sequencing (WES) and identified three heterozygous variants in IL-12Rβ1 (Ala131Thr, Arg323* and Arg561*). The two deleterious IL-12RB1 variants, Arg323* and Arg561*,were shown to be in trans (paternal and maternal, respectively). Further investigation revealed that two of these variants (Arg323* and Arg561*) could affect the binding between IL-12Rβ1 and IL-12Rβ2, leading to a weakened response of CD4+ T cells to stimulation with IL-12 plus tuberculosis antigen (TbAg), with reduced expression levels of IFN-γ and its downstream target p-STAT4. However, these variants did not affect the CD4+ T-cell response to glucan stimulation, as the three heterozygous variant loci do not interfere with the aggregation of IL-12Rβ1 and IL-23R. This autosomal recessive, partial IL-12Rβ1 deficiency ultimately resulted in the patient developing disseminated NTM infection. In clinical treatment, we combined IFN-γ with standard antimycobacterial therapy. The patient showed only a partial response to therapy. Therefore, as detection techniques continue to advance, it is important for clinicians to increase their understanding of MSMD to enable faster and more accurate diagnosis and treatment. - Source: PubMed
Publication date: 2026/04/21
Chen JinmeiXi MinHu WeiweiHe RongliZhang WenruiZhang YiChen XiaohuaChen Jie