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Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2

Hui Ong, Eugene Liat; Cooray, Samantha; Brogan, Paul; Calonje, Eduardo; (2023) Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2. American Journal of Dermatopathology , 45 (1) pp. 47-50. 10.1097/DAD.0000000000002286. Green open access

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Abstract

Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive monogenic autoinflammatory syndrome that is classically characterised by polyarteritis nodosa, systemic vasculitis and stroke. The spectrum of disease manifestations has broadened to encompass a range of cutaneous, vascular and haematological manifestations. We report a novel association in two sisters with heterozygous p.R169G/p.M309l mutations in ADA2 with low serum ADA2 activity who both presented similarly with clinical and histological features consistent with histiocytoid Sweet syndrome.

Type: Article
Title: Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/DAD.0000000000002286
Publisher version: https://doi.org/10.1097/DAD.0000000000002286
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Adenosine Deaminase, Humans, Intercellular Signaling Peptides and Proteins, Mutation, Polyarteritis Nodosa, Sweet Syndrome
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10161877
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