{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T17:28:36Z","timestamp":1792517316217,"version":"4.5.0"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T00:00:00Z","timestamp":1571875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autoinflammation and phospholipase C\u03b32\u2010associated antibody deficiency and immune dysregulation (<jats:styled-content style=\"fixed-case\">APLAID<\/jats:styled-content>) is an exceedingly rare monogenic autoinflammatory disease. To date, only five cases have been reported with four distinct pathogenic mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We present a novel case of <jats:styled-content style=\"fixed-case\">APLAID<\/jats:styled-content>, corroborated by molecular analysis, with newly described clinical findings including central nervous system vasculitis (<jats:styled-content style=\"fixed-case\">CNSV<\/jats:styled-content>); and distinctive histopathological characteristics that may expand our knowledge of this rare disease\u2032s phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a case report presentation of a 3\u2010year\u2010old boy, seen at a reference paediatric hospital in Mexico. His parents authorized the use of his clinical information and photographs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 3\u2010day\u2010old boy presented to the emergency department with a vesiculo\u2010pustular rash that resolved within 1\u00a0week. Two months later, he developed widespread papules and pseudovesicles that evolved into infiltrated plaques. He also had periodical flares of conjunctivitis, diarrhoea and erythematous blistering acral plaques triggered by upper respiratory infections. By the age of 10\u00a0months, he experienced seizures and <jats:styled-content style=\"fixed-case\">CNSV<\/jats:styled-content>. Laboratory work\u2010up showed mild neutropenia, decreased serum levels of immunoglobulins and B\u2010cell lymphopenia. A skin biopsy revealed a dense, perivascular and interstitial histiocytic and granulomatous infiltrate, with palisading granulomas, and leucocytoclastic vasculitis with karyorrhexis. <jats:styled-content style=\"fixed-case\">APLAID<\/jats:styled-content> syndrome was confirmed by Sanger sequencing of <jats:italic><jats:styled-content style=\"fixed-case\">PLCG<\/jats:styled-content>2<\/jats:italic> gene [heterozygous genotype <jats:styled-content style=\"fixed-case\">LRG<\/jats:styled-content>_376t1:c.2543T&gt;C or p.(Leu848Pro)].<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Presence of <jats:styled-content style=\"fixed-case\">CNSV<\/jats:styled-content> has not been previously described in <jats:styled-content style=\"fixed-case\">APLAID<\/jats:styled-content>, however as the number of reported patients with <jats:styled-content style=\"fixed-case\">APLAID<\/jats:styled-content> is very small, it is possible that the overall spectrum of clinical manifestations has not been completely elucidated. The herein identified p.(Leu848Pro) variant was also documented in a Portuguese patient, suggesting that it could be a <jats:italic><jats:styled-content style=\"fixed-case\">PLCG<\/jats:styled-content>2<\/jats:italic> gene \u2018hot\u2010spot\u2019.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.15918","type":"journal-article","created":{"date-parts":[[2019,8,29]],"date-time":"2019-08-29T17:59:26Z","timestamp":1567101566000},"page":"2334-2339","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Expanding the clinical features of autoinflammation and phospholipase C\u03b32\u2010associated antibody deficiency and immune dysregulation by description of a novel patient"],"prefix":"10.1111","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8036-2460","authenticated-orcid":false,"given":"E.","family":"Mor\u00e1n\u2010Villase\u00f1or","sequence":"first","affiliation":[{"name":"Department of Dermatology Instituto Nacional de Pediatr\u00eda Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4726-2983","authenticated-orcid":false,"given":"M.","family":"Saez\u2010de\u2010Ocariz","sequence":"additional","affiliation":[{"name":"Department of Dermatology Instituto Nacional de Pediatr\u00eda Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Torrelo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Infantil Universitario Ni\u00f1o Jes\u00fas Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.I.","family":"Arostegui","sequence":"additional","affiliation":[{"name":"Department of Immunology Hospital Cl\u00ednic\u2010Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer Barcelona 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Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3617-8148","authenticated-orcid":false,"given":"J.A.","family":"Vel\u00e1zquez\u2010Arag\u00f3n","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology Instituto Nacional de Pediatr\u00eda Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"L\u00f3pez\u2010Herrera","sequence":"additional","affiliation":[{"name":"Immunodeficiencies Research Unit Instituto Nacional de Pediatr\u00eda Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Berr\u00f3n\u2010Ruiz","sequence":"additional","affiliation":[{"name":"Immunodeficiencies Research Unit Instituto Nacional de Pediatr\u00eda Mexico City 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