Coexisting mutations in <i>CARD14</i> and <i>NUDT15</i> detected in a young female with azathioprine hypersensitivity syndrome manifested as acute generalized exanthematous pustulosis

Chen, Chih‐Yu; Chiang, Chien-Ping; Chen, Hsiang-Cheng; Gao, Hong‐Wei; Wang, Weiming; Hung, Chih‐Tsung

doi:10.1111/1346-8138.15240

Cited by 4 publications

(2 citation statements)

References 5 publications

(9 reference statements)

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“…Recent studies in other diseases and in other populations, including European population, show that in these cases also, such polymorphisms could be a risk marker for accumulation of active metabolites 15 . In addition to this relationship between NUDT15 polymorphisms and AZA dose‐dependent AEs, two cases of AHS with the same NUDT15 polymorphism (Arg139Cys, rs116855232) have been published recently 16,17 . We tested for this polymorphism in our two patients, both white men, with negative results.…”

Section: Reportmentioning

confidence: 77%

“…15 In addition to this relationship between NUDT15 polymorphisms and AZA dosedependent AEs, two cases of AHS with the same NUDT15 polymorphism (Arg139Cys, rs116855232) have been published recently. 16,17 We tested for this polymorphism in our two patients, both white men, with negative results. Testing for the main polymorphisms related to low TMPT activity levels was also negative.…”

Section: Reportmentioning

confidence: 99%

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Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations

et al. 2021

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Azathioprine is an immunosuppressant drug used in many dermatological and nondermatological pathologies. Azathioprine hypersensitivity syndrome (AHS) is a rare idiosyncratic reaction that is not related to dose or thiopurine methyltransferase activity. Up to half of cases of AHS can present with variable cutaneous manifestations besides fever, malaise and other systemic symptoms. It is important to be aware of AHS, as continuance or reintroduction of the drug can led to multiorgan failure and cardiovascular collapse.

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Section: Reportmentioning

confidence: 77%

Section: Reportmentioning

confidence: 99%

Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations

et al. 2021

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Azathioprine

2020

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Azathioprine-induced hypersensitivity reaction mimicking sepsis in a patient with systemic lupus erythematosus

McKenzie

Chao

Pathak

et al. 2022

Modern Rheumatology Case Reports

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A 21-year-old woman with a history of systemic lupus erythematosus presented to the emergency department with acute-onset nausea, vomiting, and fevers. Two weeks prior, she was started on azathioprine 50 mg daily by her outpatient rheumatologist; the dose was up-titrated to 100 mg when repeat bloodwork showed no drug toxicity. The morning after increasing her dose, she was awoken by recurrent emesis. At presentation, she was febrile, tachycardic, and hypotensive. Her exam showed mild, generalized abdominal tenderness but was otherwise unremarkable. Lab work demonstrated elevated inflammatory markers, elevated liver transaminases, and stable hypocomplementemia. Chest x-ray and CT abdomen/pelvis were unrevealing. She was given intravenous fluids and broad-spectrum antibiotics, and azathioprine was held. A thorough infectious workup returned negative. A flare of her systemic lupus erythematosus was considered but deemed an unlikely explanation of her systemic inflammatory response syndrome. With azathioprine discontinuation, she made a rapid, near-complete recovery within 24 hours of admission, suggesting a diagnosis of azathioprine hypersensitivity syndrome. This case exemplifies the difficulty in distinguishing azathioprine hypersensitivity from mimickers such as infection and underlying autoimmune disease flare. Prompt recognition of hypersensitivity can lead to appropriate discontinuation of the drug and prevent future morbidity.

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Coexisting mutations in CARD14 and NUDT15 detected in a young female with azathioprine hypersensitivity syndrome manifested as acute generalized exanthematous pustulosis

Cited by 4 publications

References 5 publications

Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations

Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations

Azathioprine

Azathioprine-induced hypersensitivity reaction mimicking sepsis in a patient with systemic lupus erythematosus

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