Suspicion and Persistence: A Case of Deficiency of Adenosine Deaminase 2 in a 6-Year-Old Girl

The clinical presentation in patients with deficiency of adenosine deaminase 2 (DADA2) has many faces at vary widely age and the highly variable clinical presentation renders early diagnosis difficult. We report the case of a child with DADA2 has atypical manifestations, which is easy to be misdiagnosed. Therefore, we share the diagnosis process of this case in order to improve the understanding of the disease and reduce misdiagnosis. The case report highlights the persistence and suspicion of the clinician that ultimately allowed the diagnosis to be revealed as well as some of the key features of the underlying disease.