{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T19:10:53Z","timestamp":1784056253654,"version":"3.55.0"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Clinical and Molecular Evaluation","award":["33\/29\/2019-TF\/Rare\/BMS"],"award-info":[{"award-number":["33\/29\/2019-TF\/Rare\/BMS"]}]},{"name":"Clinical and Molecular Evaluation","award":["DT.10.02.2021"],"award-info":[{"award-number":["DT.10.02.2021"]}]},{"name":"Clinical and Molecular Evaluation","award":["IEC-11\/2019-1417"],"award-info":[{"award-number":["IEC-11\/2019-1417"]}]},{"name":"Evaluation of Immunogenetic Risk Factors"},{"name":"Mycobacterial infection","award":["5\/8\/5\/2\/ad hoc\/2020\/ECD-1"],"award-info":[{"award-number":["5\/8\/5\/2\/ad hoc\/2020\/ECD-1"]}]},{"name":"Mycobacterial infection","award":["PGI\/IEC\/2020\/001070"],"award-info":[{"award-number":["PGI\/IEC\/2020\/001070"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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.<\/jats:p>","DOI":"10.1093\/cei\/uxag035","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T05:27:47Z","timestamp":1782710867000},"source":"Crossref","is-referenced-by-count":0,"title":["Henoch-Schoenlein purpura\u2013like lesions in\n                    <i>IL12RB1<\/i>\n                    and\n                    <i>IL12B<\/i>\n                    defects\u2014a multi-centric experience from India"],"prefix":"10.1093","volume":"220","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6600-7094","authenticated-orcid":false,"given":"Yamini","family":"Sharma","sequence":"first","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pallavi","family":"Nadig","sequence":"additional","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jhumki","family":"Das","sequence":"additional","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaishnavi","family":"Iyengar","sequence":"additional","affiliation":[{"name":"Department of Immunology, Bai Jerbai Wadia Hospital for Children (BJWHC) , Mumbai ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sathish Kumar","family":"Loganathan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Christian Medical College (CMC) , Vellore ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akshaya","family":"Chougule","sequence":"additional","affiliation":[{"name":"Department of Immunology, Bai Jerbai Wadia Hospital for Children (BJWHC) , Mumbai ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijaya","family":"Gowri","sequence":"additional","affiliation":[{"name":"Department of Immunology, Bai Jerbai Wadia Hospital for Children (BJWHC) , Mumbai ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prasad","family":"Taur","sequence":"additional","affiliation":[{"name":"Department of Immunology, Bai Jerbai Wadia Hospital for Children (BJWHC) , Mumbai ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rakesh","family":"Pilania","sequence":"additional","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manpreet","family":"Dhaliwal","sequence":"additional","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2270-2532","authenticated-orcid":false,"given":"Saniya","family":"Sharma","sequence":"additional","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5414-2598","authenticated-orcid":false,"given":"Debajyoti","family":"Chatterjee","sequence":"additional","affiliation":[{"name":"Department of Histopathology, PGIMER , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Suri","sequence":"additional","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mukesh","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Immunology, Bai Jerbai Wadia Hospital for Children (BJWHC) , Mumbai ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surjit","family":"Singh","sequence":"additional","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8490-5584","authenticated-orcid":false,"given":"Pandiarajan","family":"Vignesh","sequence":"additional","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Rawat","sequence":"additional","affiliation":[{"name":"Paediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,6,29]]},"reference":[{"key":"2026071415020353300_uxag035-B1","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/j.smim.2014.09.008","article-title":"Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-\u03b3 immunity","volume":"26","author":"Bustamante","year":"2014","journal-title":"Semin Immunol"},{"key":"2026071415020353300_uxag035-B2","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1097\/MD.0b013e3181fdd832","article-title":"Revisiting human IL-12R\u03b21 deficiency: a survey of 141 patients from 30 countries","volume":"89","author":"de Beaucoudrey","year":"2010","journal-title":"Medicine (Baltimore)"},{"key":"2026071415020353300_uxag035-B3","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1126\/science.280.5368.1432","article-title":"Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency","volume":"280","author":"Altare","year":"1998","journal-title":"Science"},{"key":"2026071415020353300_uxag035-B4","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1084\/jem.20080321","article-title":"Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells","volume":"205","author":"de Beaucoudrey","year":"2008","journal-title":"J Exp Med"},{"key":"2026071415020353300_uxag035-B5","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/S1473-3099(04)01203-4","article-title":"Human genetics of intracellular infectious diseases: molecular and cellular immunity against mycobacteria and salmonellae","volume":"4","author":"van de Vosse","year":"2004","journal-title":"Lancet Infect Dis"},{"key":"2026071415020353300_uxag035-B6","first-page":"236","article-title":"Cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis in a child with interleukin-12 receptor beta-1 deficiency","volume":"56","author":"Filiz","year":"2014","journal-title":"Turk J Pediatr"},{"key":"2026071415020353300_uxag035-B7","first-page":"121","article-title":"Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature","volume":"19","author":"Sharifinejad","year":"2021","journal-title":"PediatrRheumatol Online J"},{"key":"2026071415020353300_uxag035-B8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10875-006-7830-3","article-title":"Presentation of interleukin-12\/\u221223 receptor beta1 deficiency with various clinical symptoms of Salmonella infections","volume":"26","author":"Sanal","year":"2006","journal-title":"J Clin Immunol"},{"key":"2026071415020353300_uxag035-B9","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1084\/jem.20021769","article-title":"Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications","volume":"197","author":"Fieschi","year":"2003","journal-title":"J Exp Med"},{"key":"2026071415020353300_uxag035-B10","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/s10875-019-00637-0","article-title":"Recurrent Salmonella typhi infection and autoimmunity in a young boy with complete IL-12 receptor \u03b21 deficiency","volume":"39","author":"Jindal","year":"2019","journal-title":"J Clin Immunol"},{"key":"2026071415020353300_uxag035-B11","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1007\/s10875-018-0548-1","article-title":"Impaired IL-12- and IL-23-mediated immunity due to IL-12R\u03b21 deficiency in Iranian patients with Mendelian susceptibility to mycobacterial disease","volume":"38","author":"Nekooie-Marnany","year":"2018","journal-title":"J Clin Immunol"},{"key":"2026071415020353300_uxag035-B12","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/s10875-025-01930-x","article-title":"A novel compound heterozygous mutation in the IL12RB1 gene causing susceptibility to Mycobacterium tilburgii infection: identification of the c.1561C&gt;T (p.R521X) pathogenic variant","volume":"45","author":"Qian","year":"2025","journal-title":"J Clin Immunol"},{"key":"2026071415020353300_uxag035-B13","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1002\/humu.22380","article-title":"IL-12R\u03b21 deficiency: mutation update and description of the IL12RB1 variation database","volume":"34","author":"van de Vosse","year":"2013","journal-title":"Hum Mutat"},{"key":"2026071415020353300_uxag035-B14","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/s10875-024-01779-6","article-title":"Interferon alpha therapy in MSMD","volume":"44","author":"Iyengar","year":"2024","journal-title":"J Clin Immunol"},{"key":"2026071415020353300_uxag035-B15","first-page":"e21415","article-title":"The hidden cause of maculopapular rash in interleukin-12 deficiency","volume":"14","author":"Altamimi","year":"2022","journal-title":"Cureus"},{"key":"2026071415020353300_uxag035-B16","doi-asserted-by":"crossref","first-page":"omaf069","DOI":"10.1093\/omcr\/omaf069","article-title":"Leukocytoclastic vasculitis in IL-12RB1 deficiency: a rare manifestation of Mendelian susceptibility to mycobacterial disease","volume":"2025","author":"AlKanaan","year":"2025","journal-title":"Oxford Med Case Reports"},{"key":"2026071415020353300_uxag035-B17","first-page":"25","article-title":"Salmonella typhi infection causing prolonged chronic illness and cutaneous leucocytoclastic vasculitis in a patient with IL-12 receptor \u03b21 deficiency","volume":"4","author":"Mandola","year":"2016","journal-title":"LymphoSign J"},{"key":"2026071415020353300_uxag035-B18","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1099\/00207713-50-2-887","article-title":"Description of Pandoraea gen. nov. with Pandoraea apista sp. nov., Pandoraea pulmonicola sp. nov., Pandoraea pnomenusa sp. nov., Pandoraea sputorum sp. nov. and Pandoraea norimbergensis comb. nov","volume":"50 Pt 2","author":"Coenye","year":"2000","journal-title":"Int J Syst Evol Microbiol"},{"key":"2026071415020353300_uxag035-B19","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1046\/j.1365-2249.2003.02060.x","article-title":"Th1 and Th1-inducing cytokines in Salmonella infection","volume":"131","author":"Mizuno","year":"2003","journal-title":"Clin Exp Immunol"},{"key":"2026071415020353300_uxag035-B20","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1093\/ckj\/sfz029","article-title":"T-lymphocyte in ANCA-associated vasculitis: what do we know? A pathophysiological and therapeutic approach","volume":"12","author":"Martinez Valenzuela","year":"2019","journal-title":"Clin Kidney J"},{"key":"2026071415020353300_uxag035-B21","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.jpeds.2005.10.003","article-title":"Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency","volume":"148","author":"Kutukculer","year":"2006","journal-title":"J Pediatr"},{"key":"2026071415020353300_uxag035-B22","doi-asserted-by":"crossref","first-page":"3785","DOI":"10.1007\/s00296-011-2266-3","article-title":"Investigation of the change in CD4+ T cell subset in children with Henoch\u2013Schonlein purpura","volume":"32","author":"Li","year":"2012","journal-title":"Rheumatol Int"},{"key":"2026071415020353300_uxag035-B23","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1038\/pr.2015.271","article-title":"Association between allergic diseases and risks of HSP and HSP nephritis: a population-based study","volume":"79","author":"Chen","year":"2016","journal-title":"Pediatr Res"},{"key":"2026071415020353300_uxag035-B24","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s00011-023-01816-x","article-title":"IL-4-secreting CD40L+ MAIT cells support antibody production in the peripheral blood of Henoch\u2013Sch\u00f6nlein purpura patients","volume":"73","author":"Liu","year":"2024","journal-title":"Inflamm Res"}],"container-title":["Clinical and Experimental Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/cei\/advance-article-pdf\/doi\/10.1093\/cei\/uxag035\/68641143\/uxag035.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/cei\/article-pdf\/220\/1\/uxag035\/68641143\/uxag035.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/cei\/article-pdf\/220\/1\/uxag035\/68641143\/uxag035.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T19:02:11Z","timestamp":1784055731000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/cei\/article\/doi\/10.1093\/cei\/uxag035\/8721287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1,6]]}},"URL":"https:\/\/doi.org\/10.1093\/cei\/uxag035","relation":{},"ISSN":["0009-9104","1365-2249"],"issn-type":[{"value":"0009-9104","type":"print"},{"value":"1365-2249","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026]]},"published":{"date-parts":[[2026]]},"article-number":"uxag035"}}