{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:24:14Z","timestamp":1787027054477,"version":"build-2736575974"},"reference-count":42,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T00:00:00Z","timestamp":1678060800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"\n Background<\/jats:title>\n Patients with primary immunodeficiency disorders (PIDs) often suffer from recurrent infections because of their inappropriate immune response to both common and less common pathogens. These patients may present with unique and severe cutaneous infectious manifestations that are not common in healthy individuals and may be more challenging to diagnose and treat.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To describe a cohort of patients with PIDs with atypical presentations of skin infections, who posed a diagnostic and\/or therapeutic challenge.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n This is a retrospective study of pediatric patients with PID with atypical presentations of infections, who were treated at the immunodeficiency specialty clinic and the pediatric dermatology clinic at the Sheba Medical Center between September 2012 and August 2022. Epidemiologic data, PID diagnosis, infectious etiology, presentation, course, and treatment were recorded.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Eight children with a diagnosis of PID were included, five of whom were boys. The average age at PID diagnosis was 1.7 (\u00b1SD 3.2)\u2005years. The average age of cutaneous infection was 6.9 (\u00b1SD 5.9)\u2005years. Three patients were born to consanguineous parents. The PIDs included the following: common variable immunodeficiency, severe combined immunodeficiency, DOCK8 deficiency, ataxia telangiectasia, CARD11 deficiency, MALT1 deficiency, chronic granulomatous disease, and a combined cellular and humoral immunodeficiency syndrome of unknown etiology. The infections included the following: ulcerative-hemorrhagic varicella-zoster virus (two cases) atypical fungal and bacterial infections, resistant Norwegian scabies, giant perianal verrucae (two cases), and diffuse molluscum contagiosum.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n In this case series, we present unusual manifestations of infectious skin diseases in pediatric patients with PID. In some of the cases, recognition of the infectious process prompted life-saving treatment. Increasing familiarity with these dermatological manifestations, as well as keeping a high index of suspicion, is important to enabling early diagnosis of cutaneous infections in PIDs and initiation of prompt suitable treatment.<\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fped.2023.1103726","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T06:59:27Z","timestamp":1678085967000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients"],"prefix":"10.3389","volume":"11","author":[{"given":"Ayelet","family":"Ollech","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amos J","family":"Simon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atar","family":"Lev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tali","family":"Stauber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilad","family":"Sherman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Solomon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aviv","family":"Barzilai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raz","family":"Somech","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoshana","family":"Greenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.jaad.2015.01.054","article-title":"Primary immunodeficiency update: part I. Syndromes associated with eczematous dermatitis","volume":"73","author":"Pichard","year":"2015","journal-title":"J Am Acad Dermatol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1388","DOI":"10.1016\/j.jaci.2016.12.978","article-title":"Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies","volume":"140","author":"Fischer","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1007\/s11882-014-0480-2","article-title":"Common dermatologic manifestations of primary immune deficiencies","volume":"14","author":"Relan","year":"2014","journal-title":"Curr Allergy Asthma Rep"},{"key":"B4","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1111\/all.13681","article-title":"Skin disorders are prominent features in primary immunodeficiency diseases: a systematic overview of current data","volume":"74","author":"de Wit","year":"2019","journal-title":"Allergy"},{"key":"B5","doi-asserted-by":"publisher","first-page":"108330","DOI":"10.1016\/j.clim.2019.108330","article-title":"Eczematous dermatitis in primary immunodeficiencies: a review of cutaneous clues to diagnosis","volume":"211","author":"Hoskins","year":"2020","journal-title":"Clin Immunol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.iac.2016.08.016","article-title":"Atopic dermatitis and allergic urticaria: cutaneous manifestations of immunodeficiency","volume":"37","author":"Gaudinski","year":"2017","journal-title":"Immunol Allergy Clin North Am"},{"key":"B7","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1097\/DAD.0000000000000112","article-title":"Noninfectious cutaneous granulomas in primary immunodeficiency disorders: report from a national registry","volume":"36","author":"Nanda","year":"2014","journal-title":"Am J Dermatopathol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.jaad.2015.01.055","article-title":"Primary immunodeficiency update: part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations","volume":"73","author":"Pichard","year":"2015","journal-title":"J Am Acad Dermatol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"593289","DOI":"10.3389\/fimmu.2020.593289","article-title":"Chronic mucocutaneous candidiasis in early life: insights into immune mechanisms and novel targeted therapies","volume":"11","author":"Shamriz","year":"2020","journal-title":"Front Immunol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"a015669","DOI":"10.1101\/cshperspect.a015669","article-title":"Opportunistic infections\u2014coming to the limits of immunosuppression?","volume":"3","author":"Fishman","year":"2013","journal-title":"Cold Spring Harb Perspect Med"},{"key":"B11","doi-asserted-by":"publisher","first-page":"e1302","DOI":"10.1093\/cid\/ciaa1189","article-title":"Immunosuppressive agents and infectious risk in transplantation: managing the \u201cnet state of immunosuppression\u201d","volume":"73","author":"Roberts","year":"2021","journal-title":"Clin Infect Dis"},{"key":"B12","doi-asserted-by":"publisher","first-page":"93","DOI":"10.4103\/0022-3859.113811","article-title":"An observational study of complications in chickenpox with special reference to unusual complications in an apex infectious disease hospital, Kolkata, India","volume":"59","author":"Kole","year":"2013","journal-title":"J Postgrad Med"},{"key":"B13","doi-asserted-by":"publisher","first-page":"e157","DOI":"10.5001\/omj.2020.64","article-title":"Infectious complications reporting in common variable immunodeficiency: a systematic review and meta-analysis","volume":"35","author":"Zainaldain","year":"2020","journal-title":"Oman Med J"},{"key":"B14","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1016\/0090-1229(88)90124-9","article-title":"IgG subclass distribution of antiviral antibodies in common variable immunodeficiency: effect of substitution therapy","volume":"49","author":"Linde","year":"1988","journal-title":"Clin Immunol Immunopathol"},{"key":"B15","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1136\/thx.50.11.1221","article-title":"Fatal varicella zoster infection in a severe steroid dependent asthmatic patient receiving methotrexate","volume":"50","author":"Morice","year":"1995","journal-title":"Thorax"},{"key":"B16","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1001\/jama.1972.03210030047012","article-title":"Nephrotic syndrome in association with varicella","volume":"222","author":"Krebs","year":"1972","journal-title":"JAMA"},{"key":"B17","doi-asserted-by":"publisher","first-page":"108376","DOI":"10.1016\/j.clim.2020.108376","article-title":"Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community","volume":"214","author":"Simon","year":"2020","journal-title":"Clin Immunol"},{"key":"B18","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1007\/s10875-021-01191-4","article-title":"Expanding the clinical and immunological phenotypes and natural history of MALT1 deficiency","volume":"42","author":"Sefer","year":"2022","journal-title":"J Clin Immunol"},{"key":"B19","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/s10875-019-00629-0","article-title":"Novel MALT1 mutation linked to immunodeficiency, immune dysregulation, and an abnormal T cell receptor repertoire","volume":"39","author":"Frizinsky","year":"2019","journal-title":"J Clin Immunol"},{"key":"B20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.coi.2021.02.008","article-title":"Human MALT1 deficiency and predisposition to infections","volume":"72","author":"Lu","year":"2021","journal-title":"Curr Opin Immunol"},{"key":"B21","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1038\/s41467-019-08605-3","article-title":"Hectd3 promotes pathogenic Th17 lineage through Stat3 activation and MALT1 signaling in neuroinflammation","volume":"10","author":"Cho","year":"2019","journal-title":"Nat Commun"},{"key":"B22","doi-asserted-by":"publisher","first-page":"e0003498","DOI":"10.1371\/journal.pntd.0003498","article-title":"Prospective study in a porcine model of Sarcoptes scabiei indicates the association of Th2 and Th17 pathways with the clinical severity of scabies","volume":"9","author":"Mounsey","year":"2015","journal-title":"PLoS Negl Trop Dis"},{"key":"B23","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.jpeds.2003.12.046","article-title":"Immunodeficiency and infections in ataxia telangiectasia","volume":"144","author":"Wegrzyn","year":"2004","journal-title":"J Pediatr"},{"key":"B24","first-page":"488","article-title":"An unusual clinical presentation: invasive Candida non-albicans infections in ataxia telangiectasia","volume":"18","author":"Cipe","year":"2008","journal-title":"J Investig Allergol Clin Immunol"},{"key":"B25","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1080\/08820139.2019.1567533","article-title":"Neutrophil functions in immunodeficiency due to DOCK8 deficiency","volume":"48","author":"Mandola","year":"2019","journal-title":"Immunol Invest"},{"key":"B26","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1097\/MD.0b013e31825f95b9","article-title":"Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey","volume":"91","author":"Chandesris","year":"2012","journal-title":"Medicine"},{"key":"B27","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1016\/j.jaci.2014.12.1945","article-title":"The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency","volume":"136","author":"Engelhardt","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"B28","doi-asserted-by":"publisher","first-page":"371","DOI":"10.4103\/0378-6323.95464","article-title":"Disseminated molluscum contagiosum infection in a hyper IgE syndrome","volume":"78","author":"Kharkar","year":"2012","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"B29","doi-asserted-by":"publisher","first-page":"2051","DOI":"10.1016\/S0140-6736(04)16457-X","article-title":"Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gamma cytokine receptor subunit or JAK-3 deficiency","volume":"363","author":"Laffort","year":"2004","journal-title":"Lancet"},{"key":"B30","doi-asserted-by":"publisher","first-page":"1451","DOI":"10.1016\/j.jaci.2014.07.009","article-title":"Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency","volume":"134","author":"Kamili","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"B31","doi-asserted-by":"publisher","first-page":"1482","DOI":"10.1016\/j.jaci.2018.08.013","article-title":"Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease","volume":"143","author":"Dorjbal","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"B32","doi-asserted-by":"publisher","first-page":"1818","DOI":"10.1016\/j.jaci.2017.06.047","article-title":"Combined immunodeficiency, and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)","volume":"141","author":"Dadi","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"B33","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1016\/j.jaci.2012.07.049","article-title":"Warts and all: human papillomavirus in primary immunodeficiencies","volume":"130","author":"Leiding","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"B34","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1046\/j.1525-1470.2001.1980b.x","article-title":"Treatment of human papilloma virus in a 6-month-old infant with imiquimod 5% cream","volume":"18","author":"Schaen","year":"2001","journal-title":"Pediatr Dermatol"},{"key":"B35","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1590\/S0365-05962010000400020","article-title":"Treatment of human papillomavirus in childhood with imiquimod 5% cream","volume":"85","author":"Brandt","year":"2010","journal-title":"An Bras Dermatol"},{"key":"B36","doi-asserted-by":"publisher","first-page":"e15329","DOI":"10.1111\/dth.15329","article-title":"Florid anogenital warts in a 7-month-old boy with rapid response to imiquimod","volume":"35","author":"Bhandari","year":"2022","journal-title":"Dermatol Ther"},{"key":"B37","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1586\/eri.12.77","article-title":"Infections associated with chronic granulomatous disease: linking genetics to phenotypic expression","volume":"10","author":"Ben-Ari","year":"2012","journal-title":"Expert Rev Anti Infect Ther"},{"key":"B38","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1111\/j.1525-1470.2011.01409.x","article-title":"Skin manifestations in primary immunodeficient children","volume":"28","author":"Al-Herz","year":"2011","journal-title":"Pediatr Dermatol"},{"key":"B39","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1046\/j.1525-1470.2000.01721.x","article-title":"Cutaneous markers of primary immunodeficiency diseases in children","volume":"17","author":"Berron-Ruiz","year":"2000","journal-title":"Pediatr Dermatol"},{"key":"B40","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1111\/pde.12081","article-title":"Pediatric hospital dermatology: experience with inpatient and consult services at the Mayo Clinic","volume":"30","author":"Storan","year":"2013","journal-title":"Pediatr Dermatol"},{"key":"B41","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1111\/j.1525-1470.2011.01406.x","article-title":"Pediatric dermatology consultations: a retrospective analysis of inpatient consultations referred to the dermatology service","volume":"29","author":"Pe\u00f1ate","year":"2012","journal-title":"Pediatr Dermatol"},{"key":"B42","doi-asserted-by":"publisher","first-page":"1386","DOI":"10.1111\/1346-8138.15955","article-title":"Treatment options for DOCK8 deficiency-related severe dermatitis","volume":"48","author":"Ollech","year":"2021","journal-title":"J Dermatol"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1103726\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T06:59:29Z","timestamp":1678085969000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1103726\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,6]]},"references-count":42,"alternative-id":["10.3389\/fped.2023.1103726"],"URL":"https:\/\/doi.org\/10.3389\/fped.2023.1103726","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,6]]},"article-number":"1103726"}}