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A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Wiseman, D. H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, M. M., Giardina, P. J., Klaassen, R. J., Chakraborty, P., Geraghty, M. T., Major-Cook, N., Kannengiesser, C., Thuret, I., Thompson, A. A., Marques, L., Hughes, S., Bonney, D. K., Bottomley, S. S., Fleming, M. D. and Wynn, R. F. 2013. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood 122 (1) , pp. 112-123. 10.1182/blood-2012-08-439083

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Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations, identifying a clinical subgroup of CSA associated with B immunodeficiency, periodic fevers and development delay. Twelve cases from ten families were identified. Median age at presentation was 2 months. Anemia at diagnosis was sideroblastic, typically severe (median Hb 7.1g/dL) and markedly microcytic (median MCV 62.0fL). Clinical course involved recurrent febrile illness and gastrointestinal disturbance, lacking an infective cause. Investigation revealed B cell lymphopenia (CD19+ range 0.016-0.22x109/L) and panhypogammaglobulinemia in most cases. Children displayed developmental delay alongside variable neurodegeneration, seizures, cerebellar abnormalities, sensorineural deafness and other multi-system features. Most required regular blood transfusion, iron chelation and IVIg replacement. Median survival was 48 months, with seven deaths caused by cardiac or multi-organ failure. One child underwent bone marrow transplantation aged 9 months, with apparent cure of the hematologic and immunologic manifestations. We describe and define a novel CSA and B cell immunodeficiency syndrome with additional features resembling a mitochondrial cytopathy. The molecular etiology is under investigation.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: American Society of Hematology
ISSN: 0006-4971
Date of Acceptance: 18 March 2013
Last Modified: 23 Jul 2022 08:39

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