{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T19:42:33Z","timestamp":1788896553685,"version":"build-2803163510"},"reference-count":95,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatopathology"],"abstract":"<jats:p>Autoinflammation is defined by aberrant, antigen-independent activation of the innate immune signaling pathways. This leads to increased, pro-inflammatory cytokine expression and subsequent inflammation. In contrast, autoimmune and allergic diseases are antigen-directed immune responses from activation of the adaptive immune system. The innate and adaptive immune signaling pathways are closely interconnected. The group of \u2018complex multigenic diseases\u2019 are a result of mutual dysregulation of both the autoinflammatory and autoimmune physiologic components. In contrast, monogenic autoinflammatory syndromes (MAIS) result from single mutations and are exclusively autoinflammatory in their pathogenesis. Studying the clinical and histopathological findings for the various MAIS explains the phenotypical correlates of their specific mutations. This review aims to group the histopathologic clues for autoinflammation into three recognizable patterns. The presence of these histologic patterns in a pediatric patient with recurrent fevers and systemic inflammation should raise suspicion of an autoinflammatory component in MAIS, or, more frequently, in a complex multigenic disease. The three major histopathological patterns seen in autoinflammation are as follows: (i) the \u2018neutrophilic\u2019 pattern, seen in urticarial neutrophilic dermatosis, pustular psoriasis, aseptic neutrophilic folliculitis, and Sweet\u2019s syndrome; (ii) the \u2018vasculitic\u2019 pattern seen in small vessel-vasculitis (including hypersensitivity\/leukocytoclastic vasculitis, thrombosing microangiopathy and lymphocytic vasculitis), and intermediate-sized vessel vasculitis, mimicking polyarteritis nodosa; and (iii) the \u2018granulomatous\u2019 pattern. Beyond these three patterns, there are additional histopathologic clues, which are detailed below. It is important for a dermatopathologist to recognize the patterns of autoinflammation, so that a diagnosis of MAIS or complex multigenic diseases may be obtained. Finally, careful histopathologic analyses could contribute to a better understanding of the various clinical manifestations of autoinflammation.<\/jats:p>","DOI":"10.3390\/dermatopathology8020026","type":"journal-article","created":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T21:16:58Z","timestamp":1623187018000},"page":"202-220","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Histologic Patterns and Clues to Autoinflammatory Diseases in Children: What a Cutaneous Biopsy Can Tell Us"],"prefix":"10.3390","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2542-6935","authenticated-orcid":false,"given":"Athanassios","family":"Kolivras","sequence":"first","affiliation":[{"name":"Department of Dermatology and Dermatopathology, Saint-Pierre, Brugmann and Queen Fabiola Children\u2019s University Hospitals, Universit\u00e9 Libre de Bruxelles, 1000 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Meiers","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Dermatopathology, Saint-Pierre, Brugmann and Queen Fabiola Children\u2019s University Hospitals, Universit\u00e9 Libre de Bruxelles, 1000 Brussels, Belgium"},{"name":"Department of Pathology, Laboratoire Luc Olivier, 5380 Fernelmont, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"Sass","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Dermatopathology, Saint-Pierre, Brugmann and Queen Fabiola Children\u2019s University Hospitals, Universit\u00e9 Libre de Bruxelles, 1000 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis T.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Oregon Health and Sciences University, Portland, OR 97239, USA"},{"name":"Department of Pathology, Oregon Health and Sciences University, Portland, OR 97239, USA"},{"name":"CTA Pathology, Portland, OR 97223, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/j.jaci.2020.08.017","article-title":"Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach","volume":"146","author":"Nigrovic","year":"2020","journal-title":"J. Allergy Clin. Immun."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1097\/bor.0000174210.78449.6b","article-title":"Familial autoinflammatory diseases: Genetics, pathogenesis and treatment","volume":"17","author":"Stojanov","year":"2005","journal-title":"Curr. Opin. Rheumatol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1097\/01.inf.0000258777.86510.da","article-title":"The hereditary autoinflammatory syndromes","volume":"26","author":"Chitkara","year":"2007","journal-title":"Pediatr. Infect. Dis. J."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1097\/00130832-200212000-00006","article-title":"The autoinflammatory syndromes","volume":"2","author":"McDermott","year":"2002","journal-title":"Curr. Opin. Allergy Clin. Immunol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2448","DOI":"10.3389\/fimmu.2019.02448","article-title":"Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases","volume":"10","author":"Solanich","year":"2019","journal-title":"Front. Immunol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.det.2016.07.005","article-title":"Dermatologic Manifestations of Monogenic Autoinflammatory Diseases","volume":"35","author":"Shwin","year":"2017","journal-title":"Derm. Clin."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1159\/000113940","article-title":"Neutrophilic cutaneous lupus erythematosus. At the edge between innate and acquired immunity?","volume":"216","author":"Lipsker","year":"2008","journal-title":"Dermatology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1016\/j.revmed.2008.01.022","article-title":"What\u2019s new in autoinflammatory diseases?","volume":"29","author":"Stankovic","year":"2008","journal-title":"Rev. Med. Interne"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jaad.2012.11.002","article-title":"Autoinflammation: From monogenic syndromes to common skin diseases","volume":"68","author":"Nguyen","year":"2013","journal-title":"J. Am. Dermatol."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Kelley, N., Jeltema, D., Duan, Y., and He, Y. (2019). The NLRP3 Inflammasome: An Overview of Mechanisms of Activation and Regulation. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20133328"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1097\/DAD.0000000000000390","article-title":"Neutrophilic Epitheliotropism Is a Histopathological Clue to Neutrophilic Urticarial Dermatosis","volume":"38","author":"Broekaert","year":"2016","journal-title":"Am. J. Dermatopathol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1111\/j.1600-0560.2010.01638.x","article-title":"Cryopyrin-associated periodic syndrome: An autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement","volume":"38","author":"Kolivras","year":"2011","journal-title":"J. Cutan. Pathol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1111\/jdv.15984","article-title":"Neutrophilic urticarial dermatosis. An entity bridging monogenic and polygenic autoinflammatory disorders, and beyond","volume":"34","author":"Gusdorf","year":"2020","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.annder.2018.06.010","article-title":"Neutrophilic urticarial dermatosis: A review","volume":"145","author":"Gusdorf","year":"2018","journal-title":"Ann. Dermatol. V\u00e9n\u00e9r\u00e9ologie"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1002\/art.22491","article-title":"The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model","volume":"56","author":"Aksentijevich","year":"2007","journal-title":"Arthritis Rheumatism."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1038\/ncprheum0874","article-title":"Cryopyrinopathies: Update on pathogenesis and treatment","volume":"4","author":"Neven","year":"2008","journal-title":"Nat. Clin. Pract. Rheumatol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1067\/mai.2001.118790","article-title":"Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever","volume":"108","author":"Hoffman","year":"2001","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1073\/pnas.0708616105","article-title":"Mutations in NALP12 cause hereditary periodic fever syndromes","volume":"105","author":"Jeru","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1001\/archderm.141.2.248","article-title":"Neonatal-Onset multisystem inflammatory disorder: The emerging role of pyrin genes in autoinflammatory diseases","volume":"141","author":"Kilcline","year":"2005","journal-title":"Arch. Dermatol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1056\/NEJMoa055137","article-title":"Neonatal-Onset multisystem inflammatory disease responsive to interleukin-1beta inhibition","volume":"355","author":"Dailey","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"ref_21","first-page":"1","article-title":"Cryopyrin-associated periodic syndromes and autoinflammation","volume":"33","author":"Shinkai","year":"2008","journal-title":"Clin. Exp. Dermatol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.jaad.2009.05.019","article-title":"Nonbullous neutrophilic lupus erythematosus: A newly recognized variant of cutaneous lupus erythematosus","volume":"66","author":"Brinster","year":"2012","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/j.jaad.2012.04.027","article-title":"Clinical and histopathologic review of Schnitzler syndrome: The Mayo Clinic experience (1972\u20132011)","volume":"67","author":"Sokumbi","year":"2012","journal-title":"J. Am. Dermatol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1111\/cup.12935","article-title":"Clinical and histopathological features of cutaneous manifestations of adult-onset Still disease","volume":"44","author":"Santa","year":"2017","journal-title":"J. Cutan. Pathol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1002\/art.1780401023","article-title":"Criteria for the diagnosis of familial mediterranean fever","volume":"40","author":"Livneh","year":"1997","journal-title":"Arthritis Rheum."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<30::AID-AJMG6>3.0.CO;2-B","article-title":"Late-Onset familial Mediterranean fever (FMF): A subset with distinct clinical, demographic, and molecular genetic characteristics","volume":"87","author":"Tamir","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/j.jpeds.2009.12.010","article-title":"Familial Mediterranean Fever in the First Two Years of Life: A Unique Phenotype of Disease in Evolution","volume":"156","author":"Padeh","year":"2010","journal-title":"J. Pediatr."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1111\/j.1468-3083.2011.04442.x","article-title":"Erysipelas-like erythema as the presenting feature of familial Mediterranean fever","volume":"27","author":"Lidar","year":"2012","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1111\/cup.12132","article-title":"Erysipelas-like erythema of familial Mediterranean fever syndrome: A case report with emphasis on histopathologic diagnostic clues","volume":"40","author":"Kolivras","year":"2013","journal-title":"J. Cutan. Pathol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1067\/mjd.2000.103048","article-title":"Erysipelas-like erythema of familial Mediterranean fever: Clinicopathologic correlation","volume":"42","author":"Barzilai","year":"2000","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1111\/j.1365-2230.2008.02884.x","article-title":"Recurrent bullous lesions associated with familial Mediterranean fever: A case report","volume":"34","author":"Akman","year":"2009","journal-title":"Clin. Exp. Dermatol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1056\/NEJMoa0807865","article-title":"An Autoinflammatory Disease with Deficiency of the Interleukin-1\u2013Receptor Antagonist","volume":"360","author":"Aksentijevich","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1001\/archdermatol.2011.3208","article-title":"Interleukin 1 Receptor Antagonist Deficiency Presenting as Infantile Pustulosis Mimicking Infantile Pustular Psoriasis","volume":"148","author":"Minkis","year":"2012","journal-title":"Arch. Dermatol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1056\/NEJMoa1013068","article-title":"Interleukin-36\u2013Receptor Antagonist Deficiency and Generalized Pustular Psoriasis","volume":"365","author":"Marrakchi","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/bjd.16232","article-title":"Pustular psoriasis and related pustular skin diseases","volume":"178","author":"Bachelez","year":"2018","journal-title":"Br. J. Dermatol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"e389","DOI":"10.1111\/jdv.15029","article-title":"Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris\u2014Lessons from a family with PRP and psoriasis","volume":"32","author":"Spoerri","year":"2018","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_37","first-page":"169","article-title":"Autoinflammatory diseases in dermatology: DITRA and CAMPS","volume":"40","author":"Sugiura","year":"2017","journal-title":"Nihon Rinsho Men\u2019eki Gakkai Kaishi Jpn. J. Clin. Immunol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.jaad.2018.02.034","article-title":"CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris","volume":"79","author":"Craiglow","year":"2018","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1001\/jamadermatol.2016.3601","article-title":"Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations","volume":"153","author":"Takeichi","year":"2017","journal-title":"JAMA Dermatol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1111\/cup.13633","article-title":"Histopathologic findings characteristic of CARD14-associated papulosquamous eruption","volume":"47","author":"Ring","year":"2020","journal-title":"J. Cutan. Pathol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.annder.2016.10.018","article-title":"Amicrobial pustulosis of the folds: Where have we gone 25 years after its original description?","volume":"144","author":"Schissler","year":"2017","journal-title":"Ann. Dermatol. V\u00e9n\u00e9r\u00e9ol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1111\/bjd.18003","article-title":"PAPASH, Ps APASHand PASSautoinflammatory syndromes: Phenotypic heterogeneity, common biological signature and response to immunosuppressive regimens","volume":"181","author":"Gottlieb","year":"2019","journal-title":"Br. J. Dermatol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1111\/1346-8138.15527","article-title":"First PSENEN mutation in PASH syndrome","volume":"47","author":"Zhang","year":"2020","journal-title":"J. Dermatol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1001\/jamadermatol.2013.2907","article-title":"Pyogenic Arthritis, Pyoderma Gangrenosum, Acne, and Hidradenitis Suppurativa (PAPASH): A New Autoinflammatory Syndrome Associated with a Novel Mutation of the PSTPIP1 Gene","volume":"149","author":"Marzano","year":"2013","journal-title":"JAMA Dermatol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1093\/rheumatology\/kei178","article-title":"Peculiarities of PAPA syndrome","volume":"45","author":"Tallon","year":"2006","journal-title":"Rheumatology"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"519","DOI":"10.2174\/138920210793175921","article-title":"Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review","volume":"11","author":"Smith","year":"2010","journal-title":"Curr. Genom."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.jaad.2018.10.029","article-title":"Erosive pustular dermatosis of the scalp: A neutrophilic folliculitis within the spectrum of neutrophilic dermatoses: A clinicopathologic study of 30 cases","volume":"81","author":"Tomasini","year":"2018","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"332ra45","DOI":"10.1126\/scitranslmed.aaf1471","article-title":"Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation","volume":"8","author":"Masters","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1136\/annrheumdis-2017-212403","article-title":"A20 haploinsufficiency (HA20): Clinical phenotypes and disease course of patients with a newly recognised NF-\u03baB-mediated autoinflammatory disease","volume":"77","author":"Aeschlimann","year":"2018","journal-title":"Ann. Rheum. Dis."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.jaci.2016.10.054","article-title":"Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes","volume":"140","author":"Kaustio","year":"2017","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1111\/j.1600-0560.2008.01158.x","article-title":"Sweet\u2019s syndrome in familial Mediterranean fever: Possible continuum of the neutrophilic reaction as a new cutaneous feature of FMF","volume":"36","author":"Oskay","year":"2009","journal-title":"J. Cutan. Pathol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.jaad.2009.04.046","article-title":"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome","volume":"62","author":"Torrelo","year":"2010","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1001\/jamadermatol.2018.3890","article-title":"Clinical Features of Neutrophilic Dermatosis Variants Resembling Necrotizing Fasciitis","volume":"155","author":"Sanchez","year":"2019","journal-title":"JAMA Dermatol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1001\/jamadermatol.2019.1201","article-title":"Primary Immunodeficiency, a Possible Cause of Neutrophilic Necrotizing Dermatosis","volume":"155","author":"Kaustio","year":"2019","journal-title":"JAMA Dermatol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s00296-017-3839-6","article-title":"Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes","volume":"38","author":"Jain","year":"2018","journal-title":"Rheumatol. Int."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"e3027","DOI":"10.1097\/MD.0000000000003027","article-title":"Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood with Mevalonate Kinase Deficiency","volume":"95","author":"Durel","year":"2016","journal-title":"Medicine"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/j.1651-2227.2010.01974.x","article-title":"Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report","volume":"100","author":"Korppi","year":"2011","journal-title":"Acta Paediatr."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1001\/archderm.1994.01690010063008","article-title":"Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group","volume":"130","author":"Drenth","year":"1994","journal-title":"Arch. Dermatol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1111\/j.1365-2133.1993.tb00238.x","article-title":"Association of hyperimmunoglobulinaemia D syndrome with erythema elevatum diutinum","volume":"128","author":"Miyagawa","year":"1993","journal-title":"Br. J. Dermatol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1001\/archderm.1990.01670360085015","article-title":"IgD immune complex vasculitis in a patient with hyperimmunoglobulinemia D and periodic fever","volume":"126","author":"Boom","year":"1990","journal-title":"Arch. Dermatol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.annder.2015.06.018","article-title":"Interf\u00e9ronopathies de type I","volume":"142","author":"Munoz","year":"2015","journal-title":"Ann. Dermatol. V\u00e9n\u00e9r\u00e9ol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"102361","DOI":"10.1016\/j.autrev.2019.102361","article-title":"Monogenic lupus: Dissecting heterobeneity","volume":"18","author":"Omarjee","year":"2019","journal-title":"Autoimmun. Rev."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1001\/jamadermatol.2014.3438","article-title":"Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3\u2032 Repair Exonuclease 1 (TREX1)","volume":"151","author":"Berndt","year":"2015","journal-title":"JAMA Dermatol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/j.annder.2018.07.014","article-title":"Lupus-engelures familial: Quatre cas sur trois g\u00e9n\u00e9rations","volume":"145","author":"Beltoise","year":"2018","journal-title":"Ann. Dermatol. V\u00e9n\u00e9r\u00e9ol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1111\/j.1600-0560.2007.00900.x","article-title":"Cutaneous histopathological findings of Aicardi-Gouti\u00e8res syndrome, overlap with chilblain lupus","volume":"35","author":"Kolivras","year":"2008","journal-title":"J. Cutan. Pathol."},{"key":"ref_66","first-page":"17","article-title":"Aicardi-Gouti\u00e8res syndrome: A model disease for systemic autoimmunity","volume":"175","author":"Wolf","year":"2014","journal-title":"Clin. Exp. Immunol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1056\/NEJMoa1312625","article-title":"Activated STING in a Vascular and Pulmonary Syndrome","volume":"371","author":"Liu","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1001\/jamadermatol.2015.0251","article-title":"Stimulator of Interferon Genes\u2013Associated Vasculopathy With Onset in Infancy","volume":"151","author":"Munoz","year":"2015","journal-title":"JAMA Dermatol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1056\/NEJMe1407246","article-title":"STING-Associated Vasculopathy with Onset in Infancy\u2014A New Interferonopathy","volume":"371","author":"Crow","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.jaad.2015.10.007","article-title":"Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy","volume":"74","author":"Chia","year":"2016","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399405009749","article-title":"the tumour necrosis factor receptor-associated periodic syndrome: Current concepts","volume":"7","author":"Stojanov","year":"2005","journal-title":"Expert Rev. Mol. Med."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.jbspin.2003.10.008","article-title":"Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): Definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases","volume":"71","author":"Masson","year":"2004","journal-title":"Jt. Bone Spine"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.1001\/archderm.136.12.1487","article-title":"Tumor necrosis factor receptor-associated periodic syndrome: A novel syndrome with cutaneous manifestations","volume":"136","author":"Toro","year":"2000","journal-title":"Arch. Dermatol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1001\/archderm.144.3.392","article-title":"Autoinflammatory Diseases: Clinical and Genetic Advances","volume":"144","author":"Farasat","year":"2008","journal-title":"Arch. Dermatol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1056\/NEJMoa1307362","article-title":"Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy","volume":"370","author":"Elkan","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.revmed.2017.11.006","article-title":"Les multiples facettes du d\u00e9ficit en ADA2, vascularite, maladie auto-inflammatoire et immunod\u00e9ficit: Mise au point \u00e0 partir des 135 cas de la litt\u00e9rature","volume":"39","author":"Fayand","year":"2018","journal-title":"Rev. M\u00e9d. Interne"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1056\/NEJMoa1307361","article-title":"Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2","volume":"370","author":"Zhou","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1136\/annrheumdis-2016-210802","article-title":"ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: A multicentre national study","volume":"76","author":"Caorsi","year":"2017","journal-title":"Ann. Rheum. Dis."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.jaad.2016.01.057","article-title":"Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa","volume":"75","author":"Pichard","year":"2016","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1001\/jamadermatol.2015.1635","article-title":"Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa","volume":"151","author":"Santiago","year":"2015","journal-title":"JAMA Dermatol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s12969-016-0111-7","article-title":"Monogenic polyarteritis: The lesson of ADA2 deficiency","volume":"14","author":"Caorsi","year":"2016","journal-title":"Pediatr. Rheumatol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"2628","DOI":"10.1056\/NEJMoa2026834","article-title":"Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease","volume":"383","author":"Beck","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1093\/intimm\/dxy021","article-title":"Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1","volume":"30","author":"Szymanski","year":"2018","journal-title":"Int. Immunol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1080\/08916934.2019.1613382","article-title":"Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine","volume":"52","author":"Yao","year":"2019","journal-title":"Autoimmunity"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1111\/ced.13354","article-title":"Widespread papular eruption in an infant","volume":"43","author":"Wlodek","year":"2018","journal-title":"Clin. Exp. Dermatol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"e000097","DOI":"10.1136\/rmdopen-2015-000097","article-title":"Autoinflammatory granulomatous diseases: From Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn\u2019s disease","volume":"1","author":"Caso","year":"2015","journal-title":"RMD Open"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1111\/jdv.15963","article-title":"Early onset granulomatous arthritis, uveitis and skin rash: Characterisation of skin involvement in Blau syndrome","volume":"34","author":"Poline","year":"2019","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1016\/j.jaci.2012.02.004","article-title":"Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease","volume":"129","author":"Janssen","year":"2012","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/j.jaad.2012.09.025","article-title":"Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations","volume":"68","author":"Yao","year":"2013","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.semarthrit.2015.05.007","article-title":"Granulomatous disease associated with NOD2 sequence variants and familial camptodactyly: An intermediate form of NOD2-associated diseases?","volume":"45","author":"Shen","year":"2015","journal-title":"Semin. Arthritis Rheu."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/s12969-017-0188-7","article-title":"Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: A case report","volume":"15","author":"Dziedzic","year":"2017","journal-title":"Pediatr. Rheumatol. Online J."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.1111\/jdv.15918","article-title":"Expanding the clinical features of autoinflammation and phospholipase C\u03b32-associated antibody deficiency and immune dysregulation by description of a novel patient","volume":"33","author":"Torrelo","year":"2019","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1001\/jamadermatol.2014.5641","article-title":"Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated with PLCG2 Mutations","volume":"151","author":"Aderibigbe","year":"2015","journal-title":"JAMA Dermatol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/s10875-015-0177-x","article-title":"PLAID: A Syndrome of Complex Patterns of Disease and Unique Phenotypes","volume":"35","author":"Milner","year":"2015","journal-title":"J. Clin. Immunol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1056\/NEJMoa1102140","article-title":"Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions","volume":"366","author":"Ombrello","year":"2012","journal-title":"N. Engl. J. Med."}],"container-title":["Dermatopathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2296-3529\/8\/2\/26\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:11:58Z","timestamp":1760163118000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2296-3529\/8\/2\/26"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,8]]},"references-count":95,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,6]]}},"alternative-id":["dermatopathology8020026"],"URL":"https:\/\/doi.org\/10.3390\/dermatopathology8020026","relation":{},"ISSN":["2296-3529"],"issn-type":[{"value":"2296-3529","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,8]]}}}