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Atypical Presentation of Adenosine Deaminase-2 Deficiency with Bi-allelic ADA2 Mutation
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  • Reem Ali AlShaikh,
  • Dimah Saad Alnowaiser,
  • Abdul Ali Peer Zada,
  • Awatif AlMutairi,
  • Hamzah AlGhamdi
Reem Ali AlShaikh
King Fahad Medical City
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Dimah Saad Alnowaiser
King Fahad Medical City
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Abdul Ali Peer Zada
King Fahad Medical City
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Awatif AlMutairi
KFMC
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Hamzah AlGhamdi
KFMC
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Abstract

Herein, we report a case of VAIHS with atypical clinical presentation of perianal abscess, fistula fever and bicytopenia including pathogenic ADA2 mutation suggesting that ADA2 deficiency be considered as a differential diagnosis of enlarging cutaneous abscess with no evidence of wound healing in the setting of leukopenia and neutropenia.
04 Jul 2022Submitted to Clinical Case Reports
04 Jul 2022Assigned to Editor
04 Jul 2022Submission Checks Completed
04 Jul 2022Editorial Decision: Accept