Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia

Alabbas, Fahad; Alanzi, Talal; Alrasheed, Abdulrahman; Essa, Mohammed F.; Elyamany, Ghaleb; Asiri, Abdulrahman; Al-Mutairi, S. A.; Al‐Mayouf, Sulaiman M.; Alenazi, Abdullatif; Alsafadi, Danyah; Ballourah, Walid; Albalawi, Naif; Hanafy, Ehab; Al‐Hebshi, Abdulqader; Alrashidi, Seham; Albatniji, Fatma; Alfaraidi, Huda; Ali, Tahani Bin; Qwaiee, Mansour Al; AlHilali, Maryam; Aldeeb, Hayam; Alhaidey, Ali; Aljasem, Hassan; Althubaiti, Sami; Alsultan, Abdulrahman

doi:10.1007/s10875-022-01364-9

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“…Neutropenia have been mostly reported in frequencies around 15%, and even within hematologic phenotype, predominant neutropenia is very uncommon ( 12 , 13 ). A recent Saudi cohort of 21 patients from 14 families, however, encountered neutropenia in 76% of patients and described hematological phenotype as predominant; nevertheless, it is noteworthy that mild neutropenia is a common clinical problem in that region ( 14 ). Oral aphthous lesions are an uncommon finding in overall DADA2 patients ( 12 , 13 , 15 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment

Raimundo¹,

Cordeiro²,

Freixo³

et al. 2023

Front. Pediatr.

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Deficiency of adenosine deaminase 2 (DADA2), first reported in 2014, is a disease with great phenotypic variability, which has been increasingly reported. Therapeutic response depends on the phenotype. We present a case of an adolescent with recurrent fever, oral aphthous ulcers, and lymphadenopathy from 8 to 12 years of age and subsequently presented with symptomatic neutropenia. After the diagnosis of DADA2, therapy with infliximab was started, but after the second dose, she developed leukocytoclastic vasculitis and showed symptoms of myopericarditis. Infliximab was switched to etanercept, with no relapses. Despite the safety of tumor necrosis factor alpha inhibitors (TNFi), paradoxical adverse effects have been increasingly reported. The differential diagnosis between disease new-onset manifestations of DADA2 and side effects of TNFi can be challenging and warrants further clarification.

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