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Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
- Source :
- Journal of Clinical Immunology; Jan2023, Vol. 43 Issue 1, p1-30, 30p
- Publication Year :
- 2023
-
Abstract
- Background and Purpose: Sideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD) syndrome is a novel rare autoinflammatory multisystem disorder. We performed a systematic review of the available clinical and therapeutics aspects of the SIFD syndrome. Methods: A systematic review according to PRISMA approach, including all articles published before the 30<superscript>th</superscript> of July 2021 in Pubmed and EMBASE database, was performed. Results: 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 months (range 0–252 months). 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-TNFα and hematopoietic cell stems transplantation (HCST) is dramatically changing the natural history of this disease. Conclusions: 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-TNFα treatment and/or HCST are attractive and might modify the clinical course of this syndrome. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 02719142
- Volume :
- 43
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Journal of Clinical Immunology
- Publication Type :
- Academic Journal
- Accession number :
- 161300496
- Full Text :
- https://doi.org/10.1007/s10875-022-01343-0