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.
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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-pp.ucl.ac.uk/id/eprint/10161877 |
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