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Atypical Presentation of Adenosine Deaminase Deficiency ADA2 Deficiency
  • +2
  • Reem Ali AlShaikh,
  • Dimah Saad Alnowaiser,
  • Abdul Ali Peer Zada,
  • Awatif AlMutairi,
  • Hamzah AlGhamdi
Reem Ali AlShaikh
King Fahad Medical City

Corresponding Author:[email protected]

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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
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Hamzah AlGhamdi
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Here we report on a challenging diagnosis of VIAHS in a patient who presented at a very early age with a perianal abscess with fistula formation, fever, aphthous ulcers, bicytopenia, and hematochezia. Marked phenotypic variability can occur, and screening for families should be initiated in those with ADA2 mutation.
12 Dec 2021Submitted to Clinical Case Reports
14 Dec 2021Submission Checks Completed
14 Dec 2021Assigned to Editor
23 Dec 2021Reviewer(s) Assigned
26 Dec 2021Review(s) Completed, Editorial Evaluation Pending
26 Dec 2021Editorial Decision: Revise Minor
11 Jan 20221st Revision Received
17 Jan 2022Submission Checks Completed
17 Jan 2022Assigned to Editor
17 Jan 2022Review(s) Completed, Editorial Evaluation Pending
21 Jan 2022Editorial Decision: Accept