Atypical presentation of adenosine deaminase 2 deficiency with bi-allelic ADA2 mutation.

Al-Shaikh, Reem; Alnowaiser, Dimah; Peer-Zada, Abdul Ali; Almutairi, Awatif; Alghamdi, Hamza.

Al-Shaikh R; General Pediatrics Department, Allergy and Immunology Section Children's Specialized Hospital King Fahad Medical City Riyadh Saudi Arabia.
Alnowaiser D; General Pediatrics Department, Allergy and Immunology Section Children's Specialized Hospital King Fahad Medical City Riyadh Saudi Arabia.
Peer-Zada AA; Molecular Pathology (Genetics) Section, Pathology and Clinical Laboratory Medicine Administration King Fahad Medical City Riyadh Saudi Arabia.
Almutairi A; General Pediatrics Department, Allergy and Immunology Section Children's Specialized Hospital King Fahad Medical City Riyadh Saudi Arabia.
Alghamdi H; General Pediatrics Department, Allergy and Immunology Section Children's Specialized Hospital King Fahad Medical City Riyadh Saudi Arabia.

Clin Case Rep ; 10(3): e05408, 2022 Mar.

Article en En | MEDLINE | ID: mdl-35261770

ABSTRACT

Herein, we report a case of VAIHS with atypical clinical presentation of perianal abscess, fistula fever, and bi-cytopenia 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.

Palabras clave

ADA2; autoinflammation; autosomal recessive vasculitis; hematologic defects syndrome; immunodeficiency

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2022 Tipo del documento: Article