{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T20:44:36Z","timestamp":1792097076877,"version":"4.4.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,12,17]],"date-time":"2020-12-17T00:00:00Z","timestamp":1608163200000},"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":["Aust J Dermatology"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Sideroblastic anaemia, B\u2010cell immunodeficiency, periodic fever and developmental delay (SIFD) is caused by mutations of TRNT1, an enzyme essential for mitochondrial protein synthesis, and has been reported in 23 cases. A 6\u2010month\u2010old girl was evaluated with recurrent fever, failure to thrive, skin lesions and anaemia. She received blood transfusions and empirical antibiotics. Skin lesions, previously interpreted as insect bites, consisted of numerous firm asymptomatic erythematous papules and nodules, distributed over trunk and limbs. Skin histopathology revealed an intense dermal neutrophilic infiltrate extending to the subcutaneous, with numerous atypical myeloid cells, requiring the diagnosis of leukaemia cutis, to be ruled out. Over the follow\u2010up, she developed herpetic stomatitis, tonsillitis, lobar pneumonia and Metapneumovirus tracheitis, and also deeper skin lesions, resembling panniculitis. Hypogammaglobulinaemia was diagnosed. An autoinflammatory disease was confirmed by whole exome sequencing: heterozygous mutations for TRNT1 NM_182916 c.495_498del, p.F167Tfs * 9 and TRNT1 NM_182916 c.1246A&gt;G, p.K416E. The patient has been treated with subcutaneous immunoglobulin and etanercept. She presented with developmental delay and short stature for age. The fever, anaemia, skin neutrophilic infiltration and the inflammatory parameters improved. We describe a novel mutation in SIFD and the first to present skin manifestations, namely neutrophilic dermal and hypodermal infiltration.<\/jats:p>","DOI":"10.1111\/ajd.13527","type":"journal-article","created":{"date-parts":[[2020,12,18]],"date-time":"2020-12-18T07:06:58Z","timestamp":1608275218000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease"],"prefix":"10.1111","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9831-4080","authenticated-orcid":false,"given":"Maine Luellah Demaret","family":"Bardou","sequence":"first","affiliation":[{"name":"Clinical Immunology Faculdade de Medicina Centro Universitario Saude ABC Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2910-7330","authenticated-orcid":false,"given":"Maria Cecilia","family":"Rivitti\u2010Machado","sequence":"additional","affiliation":[{"name":"Department of Dermatology Faculdade de Medicina University of S\u00e3o Paulo Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9300-163X","authenticated-orcid":false,"given":"Nilceo Schwery","family":"Michalany","sequence":"additional","affiliation":[{"name":"Collaborating Professor of Pathology Department Federal University of S\u00e3o Paulo (UNIFESP) Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2352-909X","authenticated-orcid":false,"given":"Adriana Almeida","family":"de Jesus","sequence":"additional","affiliation":[{"name":"Translational Autoinflammatory Disease Studies Unit National Institute of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7865-5769","authenticated-orcid":false,"given":"Raphaela","family":"Goldbach\u2010Mansky","sequence":"additional","affiliation":[{"name":"Translational Autoinflammatory Disease Studies Unit National Institute of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5803-6274","authenticated-orcid":false,"given":"Jo\u00e3o Coriolano Rego","family":"Barros","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculdade de Medicina University of S\u00e3o Paulo Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2496-4296","authenticated-orcid":false,"given":"Maria Teresa de Sande e Lemos Ramos Ascens\u00e3o","family":"Terreri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federal University of S\u00e3o Paulo Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9803-0309","authenticated-orcid":false,"given":"Anete Sevciovic","family":"Grumach","sequence":"additional","affiliation":[{"name":"Clinical Immunology Faculdade de Medicina Centro Universitario Saude ABC Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,17]]},"reference":[{"issue":"8","key":"e_1_2_3_2_1","first-page":"1798","article-title":"Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors","volume":"171","author":"Giannelou A","year":"2014","journal-title":"Br. 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