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We performed a systematic review of the available clinical and therapeutics aspects of the SIFD syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A systematic review according to PRISMA approach, including all articles published before the 30\n                      <jats:sup>th<\/jats:sup>\n                      of July 2021 in Pubmed and EMBASE database, was performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The search identified 29 publications describing 58 unique patients. To date, 41 unique mutations have been reported. Onset of disease is very early with a median age of 4\u00a0months (range 0\u2013252\u00a0months). The most frequent manifestations are haematologic such as microcytic anaemia or sideroblastic anaemia (55\/58), recurrent fever (52\/58), neurologic abnormalities (48\/58), immunologic abnormalities in particular a humoral immunodeficiency (48\/58), gastrointestinal signs and symptoms (38\/58), eye diseases as cataract and retinitis pigmentosa (27\/58), failure to thrive (26\/58), mucocutaneous involvement (29\/58), sensorineural deafness (19\/58) and others. To date, 19 patients (35.85%) died because of disease course (16) and complications of hematopoietic cell stems transplantation (3). The use of anti-TNF\u03b1 and hematopoietic cell stems transplantation (HCST) is dramatically changing the natural history of this disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>SIFD syndrome is a novel entity to consider in a child presenting with recurrent fever, anaemia, B-cell immunodeficiency and neurodevelopmental delay. To date, therapeutic guidelines are lacking but anti-TNF\u03b1 treatment and\/or HCST are attractive and might modify the clinical course of this syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10875-022-01343-0","type":"journal-article","created":{"date-parts":[[2022,8,19]],"date-time":"2022-08-19T04:03:52Z","timestamp":1660881832000},"page":"1-30","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review"],"prefix":"10.1007","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6418-3254","authenticated-orcid":false,"given":"Ilaria","family":"Maccora","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athimalaipet V.","family":"Ramanan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Wiseman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Marrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria V.","family":"Mastrolia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Simonini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,8,19]]},"reference":[{"issue":"1","key":"1343_CR1","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1182\/blood-2012-08-439083","volume":"122","author":"DH Wiseman","year":"2013","unstructured":"Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, et al. 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